PanelApp (test)

Activity

Filter

Cancel
Date Panel Item Activity
723 actions
Skeletal Dysplasia_Fetal v0.223 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from Ciliopathy_MONDO_0005308; skeletal ciliopathy to Ciliopathy_MONDO_0005308, FUZ-related; skeletal ciliopathy
Skeletal Dysplasia_Fetal v0.222 FUZ Zornitza Stark Marked gene: FUZ as ready
Skeletal Dysplasia_Fetal v0.222 FUZ Zornitza Stark Gene: fuz has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.222 FUZ Zornitza Stark Classified gene: FUZ as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.222 FUZ Zornitza Stark Gene: fuz has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.220 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Skeletal Dysplasia_Fetal v0.220 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Skeletal Dysplasia_Fetal v0.220 FUZ Chirag Patel gene: FUZ was added
gene: FUZ was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUZ were set to PMID: 38702430, 29068549, 34719684
Phenotypes for gene: FUZ were set to Ciliopathy_MONDO_0005308; skeletal ciliopathy
Review for gene: FUZ was set to GREEN
gene: FUZ was marked as current diagnostic
Added comment: FUZ is crucial for the transport of components to the primary cilium and potentially promotes protein complex assembly necessary for downstream cilium formation and function. Previous studies have shown complete knockout of Fuz in a mouse model leads to prenatal lethality, coronal craniosynostosis, micrognathia, facial malformations, eye, and heart defects. Suggested as a skeletal ciliopathy disorder gene.

PMID: 38702430
1 individual (from family with 2 affecteds) with orofaciodigital syndrome like phenotype (dysmorphism, bilateral foot preaxial polysyndactyly, right foot postaxial polysyndactyly, broad thumbs, bilateral 5th finger clinodactyly narrow chest, partial AVSD). They found a homozygous missense variant in FUZ [p.(Glu201Lys)]. Parents were heterozygous carriers. A sibling died at 18mths and had complete AVSD, bilateral cleft lip and palate, right 5th finger clinodactyly, and medially deviated/broad great toes.

1 fetus with orofaciodigital syndrome like phenotype (right cleft lip, 4 limb polydactyly, bilateral duplicated hallux, and AVSD). They found compound heterozygous variants in FUZ [p.(Val209_Leu212del) and p.(Glu201Lys)].

PMID: 29068549
1 fetus with lethal short-rib polydactyly syndrome II-like phenotype and a homozygous variant (c.98_111+9del) in FUZ.
1 individual with asphyxiating thoracic dystrophy (ATD) with polydactyly and a (unclear if homozygous) missense variant [p.(Arg284Leu)] in FUZ.

PMID: 34719684
Monozygotic twins with craniosynostosis (1 x metopic, 1 x metopic/coronal) and a homozygous missense variant in FUZ [p.(Arg284Pro)]. They cultured primary osteoblasts and mouse embryonic fibroblasts from Fuz mutant mice. Loss of Fuz resulted in increased osteoblastic mineralisation, suggesting that the FUZ protein normally acts as a negative regulator of osteogenesis.
Sources: Literature
Skeletal Dysplasia_Fetal v0.219 HSPG2 Ain Roesley Publications for gene: HSPG2 were set to
Skeletal Dysplasia_Fetal v0.218 HSPG2 Ain Roesley Phenotypes for gene: HSPG2 were changed from to Schwartz-Jampel syndrome, type 1, MIM#255800; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410; Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139)
Skeletal Dysplasia_Fetal v0.217 HSPG2 Ain Roesley Marked gene: HSPG2 as ready
Skeletal Dysplasia_Fetal v0.217 HSPG2 Ain Roesley Gene: hspg2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.217 HSPG2 Dean Phelan reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38424183; Phenotypes: Dyssegmental dysplasia, Rolland-Desbuquois type (MONDO:0009139); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.217 LFNG Elena Savva Marked gene: LFNG as ready
Skeletal Dysplasia_Fetal v0.217 LFNG Elena Savva Gene: lfng has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.217 LFNG Elena Savva Phenotypes for gene: LFNG were changed from to Spondylocostal dysostosis 3, autosomal recessive, MIM#609813
Skeletal Dysplasia_Fetal v0.216 LFNG Elena Savva Publications for gene: LFNG were set to
Skeletal Dysplasia_Fetal v0.216 LFNG Elena Savva Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.215 KIAA0586 Elena Savva Publications for gene: KIAA0586 were set to
Skeletal Dysplasia_Fetal v0.214 KIAA0586 Elena Savva Phenotypes for gene: KIAA0586 were changed from to Joubert syndrome 23 MIM#616490; Short-rib thoracic dysplasia 14 with polydactyly MIM#616546
Skeletal Dysplasia_Fetal v0.214 KIAA0586 Elena Savva Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.213 HYLS1 Elena Savva Publications for gene: HYLS1 were set to 15843405; 18648327; 19400947; 19656802; 32509774; 26830932
Skeletal Dysplasia_Fetal v0.212 HYLS1 Elena Savva edited their review of gene: HYLS1: Added comment: PMID: 34212369 - additional two fetuses with a phenotype of HLS with brain abnormalities, limbs malformations with pre and postaxial hexadactyly and abnormal genitalia. Probands were het for the Finnish founder variant (p.Asp211Gly) but each chet with a novel variant (p.(Arg221Pro, p.(Arg205*)). One fetus had occipital meningocele
molar tooth sign, the other craniorachischisis; Changed publications: PMID: 26830932, 34212369, 15843405, 18648327, 19400947, 19656802, 32509774; Changed phenotypes: Hydrolethalus syndrome MIM#236680
Skeletal Dysplasia_Fetal v0.212 RAB34 Zornitza Stark Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Orofaciodigital syndrome 20, MIM#620718
Skeletal Dysplasia_Fetal v0.211 RAB34 Zornitza Stark reviewed gene: RAB34: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome 20, MIM#620718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.211 ERI1 Zornitza Stark Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related to Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663
Skeletal Dysplasia_Fetal v0.210 ERI1 Zornitza Stark reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.210 SP7 Zornitza Stark Marked gene: SP7 as ready
Skeletal Dysplasia_Fetal v0.210 SP7 Zornitza Stark Gene: sp7 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.210 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta, type XII, MIM# 613849
Skeletal Dysplasia_Fetal v0.209 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.208 SP7 Zornitza Stark Classified gene: SP7 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.208 SP7 Zornitza Stark Gene: sp7 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.207 SERPINF1 Zornitza Stark Marked gene: SERPINF1 as ready
Skeletal Dysplasia_Fetal v0.207 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.207 SERPINF1 Zornitza Stark Classified gene: SERPINF1 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.207 SERPINF1 Zornitza Stark Gene: serpinf1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Marked gene: RAB34 as ready
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Classified gene: RAB34 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.206 RAB34 Zornitza Stark Gene: rab34 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.205 RAB34 Melanie Marty gene: RAB34 was added
gene: RAB34 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to PMID: 37619988; PMID: 37384395
Phenotypes for gene: RAB34 were set to Multiple congenital anomalies, (MONDO:0019042), RAB34-related
Review for gene: RAB34 was set to GREEN
Added comment: PMID: 37619988 Compound heterozygous variants identified in RAB34 in a fetus with multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly.

PMID: 37384395 Biallelic variants in RAB34 were identified in 3 unrelated families. Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, and brain malformations), resulting in medical termination for three probands.
Sources: Literature
Skeletal Dysplasia_Fetal v0.205 IFT74 Krithika Murali Marked gene: IFT74 as ready
Skeletal Dysplasia_Fetal v0.205 IFT74 Krithika Murali Gene: ift74 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.205 IFT74 Krithika Murali Classified gene: IFT74 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.205 IFT74 Krithika Murali Gene: ift74 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.204 IFT74 Naomi Baker gene: IFT74 was added
gene: IFT74 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to PMID: 37315079
Phenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related
Review for gene: IFT74 was set to GREEN
Added comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants).

Authors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele.
Sources: Literature
Skeletal Dysplasia_Fetal v0.204 ERI1 Elena Savva Classified gene: ERI1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.204 ERI1 Elena Savva Gene: eri1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.204 ERI1 Elena Savva Classified gene: ERI1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.204 ERI1 Elena Savva Gene: eri1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.203 ERI1 Elena Savva Marked gene: ERI1 as ready
Skeletal Dysplasia_Fetal v0.203 ERI1 Elena Savva Gene: eri1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.203 ERI1 Elena Savva gene: ERI1 was added
gene: ERI1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 37352860
Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related
Review for gene: ERI1 was set to GREEN
Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families
- Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly
- Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly
- Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive

- Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells
- K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense

More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy
with ERI1, staying bound to those RNA molecules"
Sources: Literature
Skeletal Dysplasia_Fetal v0.202 DLL3 Zornitza Stark Marked gene: DLL3 as ready
Skeletal Dysplasia_Fetal v0.202 DLL3 Zornitza Stark Gene: dll3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.202 DLL3 Zornitza Stark Phenotypes for gene: DLL3 were changed from to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
Skeletal Dysplasia_Fetal v0.201 DLL3 Zornitza Stark Publications for gene: DLL3 were set to
Skeletal Dysplasia_Fetal v0.200 DLL3 Zornitza Stark Mode of inheritance for gene: DLL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.199 CREB3L1 Zornitza Stark Marked gene: CREB3L1 as ready
Skeletal Dysplasia_Fetal v0.199 CREB3L1 Zornitza Stark Gene: creb3l1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.199 CREB3L1 Zornitza Stark Phenotypes for gene: CREB3L1 were changed from to Osteogenesis imperfecta, type XVI, 616229
Skeletal Dysplasia_Fetal v0.198 CREB3L1 Zornitza Stark Publications for gene: CREB3L1 were set to
Skeletal Dysplasia_Fetal v0.197 CREB3L1 Zornitza Stark Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.196 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Skeletal Dysplasia_Fetal v0.196 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.196 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Collagenopathy type 2 alpha 1, MONDO:0022800
Skeletal Dysplasia_Fetal v0.195 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.194 COL1A2 Zornitza Stark Marked gene: COL1A2 as ready
Skeletal Dysplasia_Fetal v0.194 COL1A2 Zornitza Stark Gene: col1a2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.194 COL1A2 Zornitza Stark Phenotypes for gene: COL1A2 were changed from to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120; Ehlers-Danlos syndrome, arthrochalasia type, 2, MIM# 617821; Ehlers-Danlos syndrome, cardiac valvular type, MIM# 225320; Osteogenesis imperfecta, type II, MIM# 166210; Osteogenesis imperfecta, type III, MIM# 259420; Osteogenesis imperfecta, type IV, MIM# 166220
Skeletal Dysplasia_Fetal v0.193 COL1A2 Zornitza Stark Mode of inheritance for gene: COL1A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.192 COL11A2 Zornitza Stark Marked gene: COL11A2 as ready
Skeletal Dysplasia_Fetal v0.192 COL11A2 Zornitza Stark Gene: col11a2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.192 COL11A2 Zornitza Stark Phenotypes for gene: COL11A2 were changed from to Fibrochondrogenesis 2, MIM# 614524; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150
Skeletal Dysplasia_Fetal v0.191 COL11A2 Zornitza Stark Mode of inheritance for gene: COL11A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.190 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Skeletal Dysplasia_Fetal v0.190 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.190 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from to Fibrochondrogenesis 1, MIM# 228520; Marshall syndrome, MIM# 154780
Skeletal Dysplasia_Fetal v0.189 COL11A1 Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.188 CANT1 Zornitza Stark Marked gene: CANT1 as ready
Skeletal Dysplasia_Fetal v0.188 CANT1 Zornitza Stark Gene: cant1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.188 CANT1 Zornitza Stark Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1, MIM# 251450
Skeletal Dysplasia_Fetal v0.187 CANT1 Zornitza Stark Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Marked gene: MEOX1 as ready
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Classified gene: MEOX1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.186 MEOX1 Zornitza Stark Gene: meox1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.185 MBTPS1 Zornitza Stark Marked gene: MBTPS1 as ready
Skeletal Dysplasia_Fetal v0.185 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.185 MBTPS1 Zornitza Stark Phenotypes for gene: MBTPS1 were changed from ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392 to Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392
Skeletal Dysplasia_Fetal v0.184 MBTPS1 Zornitza Stark Classified gene: MBTPS1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.184 MBTPS1 Zornitza Stark Gene: mbtps1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Marked gene: MATN3 as ready
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Classified gene: MATN3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.183 MATN3 Zornitza Stark Gene: matn3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Marked gene: LTBP3 as ready
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Classified gene: LTBP3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.182 LTBP3 Zornitza Stark Gene: ltbp3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Marked gene: LONP1 as ready
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Classified gene: LONP1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.181 LONP1 Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Marked gene: GSC as ready
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Classified gene: GSC as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.180 GSC Zornitza Stark Gene: gsc has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Marked gene: GPX4 as ready
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Classified gene: GPX4 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.179 GPX4 Zornitza Stark Gene: gpx4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Marked gene: GPC6 as ready
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Classified gene: GPC6 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.178 GPC6 Zornitza Stark Gene: gpc6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.177 MEOX1 Krithika Murali gene: MEOX1 was added
gene: MEOX1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MEOX1 were set to 24073994; 23290072
Phenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958
Review for gene: MEOX1 was set to GREEN
Added comment: Review from fetal anomalies panel:

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. 3 families with multiple affected individuals and homozygous variants segregating fully with the disease. meox1cho mutant zebrafish show vertebral fusion, congenital scoliosis and asymmetry of pectoral girdle, which resembles Sprengel's deformity.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 MBTPS1 Krithika Murali gene: MBTPS1 was added
gene: MBTPS1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392
Review for gene: MBTPS1 was set to GREEN
Added comment: Review from fetal anomalies panel: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 MATN3 Krithika Murali gene: MATN3 was added
gene: MATN3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: MATN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MATN3 were set to 31724101; 32025536; 11968079; 14729835
Phenotypes for gene: MATN3 were set to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728
Review for gene: MATN3 was set to GREEN
Added comment: Fetal anomalies panel review: perinatal onset of the more severe SEMD phenotype.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 LTBP3 Krithika Murali gene: LTBP3 was added
gene: LTBP3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LTBP3 were set to PMID: 27068007
Phenotypes for gene: LTBP3 were set to Geleophysic dysplasia 3 - MIM#617809
Review for gene: LTBP3 was set to GREEN
Added comment: Antenatal findings of disproportionately restricted length and shortened long bones described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 LONP1 Krithika Murali gene: LONP1 was added
gene: LONP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to PMID: 25574826
Phenotypes for gene: LONP1 were set to CODAS syndrome - MIM#600373
Review for gene: LONP1 was set to GREEN
Added comment: Prenatal identification of shortened long bones reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Marked gene: HHAT as ready
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Classified gene: HHAT as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.177 HHAT Zornitza Stark Gene: hhat has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Marked gene: IHH as ready
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Classified gene: IHH as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.176 IHH Zornitza Stark Gene: ihh has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Marked gene: KIAA0753 as ready
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Classified gene: KIAA0753 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.175 KIAA0753 Zornitza Stark Gene: kiaa0753 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Marked gene: KIF5B as ready
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Classified gene: KIF5B as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.174 KIF5B Zornitza Stark Gene: kif5b has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.173 KIF5B Krithika Murali gene: KIF5B was added
gene: KIF5B was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 35342932
Phenotypes for gene: KIF5B were set to Skeletal dysplasia, MONDO:0018230; KIF5B-related; Kyphomelic dysplasia
Review for gene: KIF5B was set to GREEN
Added comment: Following review from fetal anomalies panel:

4 individuals with Kyphomelic dysplasia (severe bowing of the limbs, sharp angulation of the femora and humeri, short stature, narrow thorax, distinctive facial features, and neonatal respiratory distress. WES found de novo heterozygous missense variants in KIF5B encoding kinesin-1 heavy chain. All variants involved conserved amino acids in or close to the ATPase activity-related motifs in the catalytic motor domain of the KIF5B protein. No functional studies of variants.

Previously 2 animal model experiments showed that loss of function of KIF5B can cause kyphomelic dysplasia. First, chondrocyte-specific knockout of Kif5b in mice was shown to produce a disorganized growth plate, leading to bone deformity. Second, double mutants disrupting the two zebrafish kif5b caused abnormal skeletal morphogenesis and the curvature of Meckel's and ceratohyal cartilages.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 KIAA0753 Krithika Murali gene: KIAA0753 was added
gene: KIAA0753 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to PMID: 29138412
Phenotypes for gene: KIAA0753 were set to Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479; ?Orofaciodigital syndrome XV - MIM#617127; Short-rib thoracic dysplasia 21 without polydactyly - MIM#619479
Review for gene: KIAA0753 was set to GREEN
Added comment: Antenatal diagnosis of short limbs and narrow thorax has been reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 IHH Krithika Murali gene: IHH was added
gene: IHH was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: IHH were set to PMID: 22406540
Phenotypes for gene: IHH were set to Acrocapitofemoral dysplasia - MIM#607778; Brachydactyly, type A1 - MIM#112500
Review for gene: IHH was set to GREEN
Added comment: Antenatal diagnosis of shortened limbs and digital anomalies described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 HHAT Krithika Murali gene: HHAT was added
gene: HHAT was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 33749989
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome 600092
Review for gene: HHAT was set to GREEN
Added comment: Antenatal diagnosis of the associated skeletal dysplasia features has been reported including micromelia and narrow bell-shaped thorax.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 GSC Krithika Murali gene: GSC was added
gene: GSC was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSC were set to PMID: 24290375
Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities - MIM#602471
Review for gene: GSC was set to GREEN
Added comment: Rhizomelic shortening diagnosed at birth described. Other skeletal anomalies also associated with this condition.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 GPX4 Krithika Murali gene: GPX4 was added
gene: GPX4 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GPX4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPX4 were set to PMID: 24706940
Phenotypes for gene: GPX4 were set to Spondylometaphyseal dysplasia, Sedaghatian type-MIM#250220
Review for gene: GPX4 was set to GREEN
Added comment: small thorax, rhizomelic shortening, perinatal lethality described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 GPC6 Krithika Murali gene: GPC6 was added
gene: GPC6 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1 - MIM#258315
Review for gene: GPC6 was set to GREEN
Added comment: Severe congenital micromelia
Sources: Literature
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Marked gene: IMPAD1 as ready
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Gene: impad1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Classified gene: IMPAD1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.173 IMPAD1 Zornitza Stark Gene: impad1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Marked gene: FZD2 as ready
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Gene: fzd2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Classified gene: FZD2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.172 FZD2 Zornitza Stark Gene: fzd2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Marked gene: FIG4 as ready
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Classified gene: FIG4 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.171 FIG4 Zornitza Stark Gene: fig4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Marked gene: B4GALT7 as ready
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Classified gene: B4GALT7 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.170 B4GALT7 Zornitza Stark Gene: b4galt7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Marked gene: B3GLCT as ready
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Classified gene: B3GLCT as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.169 B3GLCT Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Marked gene: B3GAT3 as ready
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark reviewed gene: B3GAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Classified gene: B3GAT3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.168 B3GAT3 Zornitza Stark Gene: b3gat3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Classified gene: ALG9 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.167 ALG9 Zornitza Stark Gene: alg9 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Marked gene: ALG3 as ready
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Classified gene: ALG3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.166 ALG3 Zornitza Stark Gene: alg3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Marked gene: GNPTAB as ready
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Classified gene: GNPTAB as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.165 GNPTAB Zornitza Stark Gene: gnptab has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Marked gene: GNPNAT1 as ready
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.164 GNPNAT1 Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.163 GNPTAB Krithika Murali gene: GNPTAB was added
gene: GNPTAB was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPTAB were set to 20301728
Phenotypes for gene: GNPTAB were set to Mucolipidosis II alpha/beta - MIM#252500
Review for gene: GNPTAB was set to GREEN
Added comment: ML II is evident at birth - small for gestational age, deformed long bones and other skeletal anomalies.
Sources: Literature
Skeletal Dysplasia_Fetal v0.163 GNPNAT1 Krithika Murali gene: GNPNAT1 was added
gene: GNPNAT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345
Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598
Review for gene: GNPNAT1 was set to AMBER
Added comment: 3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped.
Sources: Literature
Skeletal Dysplasia_Fetal v0.163 FZD2 Krithika Murali gene: FZD2 was added
gene: FZD2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD2 were set to 25759469, 30455931, 29383834, 29230162,
Phenotypes for gene: FZD2 were set to Omodysplasia 2, OMIM #164745
Review for gene: FZD2 was set to GREEN
Added comment: Previous review by Chirag Patel Fetal anomalies panel 13.1.22

---

Skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies. Overlaps with AD Robinow syndrome. Some detected antenatally with shortened humeri and abnormal genitalia. Suitable for fetal anomalies panel.
Sources: Literature
Skeletal Dysplasia_Fetal v0.163 FIG4 Krithika Murali gene: FIG4 was added
gene: FIG4 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FIG4 were set to 31094135; 24088667; 23623387
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome - MIM#216340
Review for gene: FIG4 was set to GREEN
Added comment: Biallelic FIG4 variants are associated with an allelic disorder - Yunis-Varon syndrome - phenotypic skeletal dysplasia features include severe prenatal growth restriction, absent halluces and congenital fractures.
Sources: Literature
Skeletal Dysplasia_Fetal v0.163 C2CD3 Zornitza Stark Marked gene: C2CD3 as ready
Skeletal Dysplasia_Fetal v0.163 C2CD3 Zornitza Stark Gene: c2cd3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.163 C2CD3 Zornitza Stark Phenotypes for gene: C2CD3 were changed from to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413
Skeletal Dysplasia_Fetal v0.162 C2CD3 Zornitza Stark Publications for gene: C2CD3 were set to
Skeletal Dysplasia_Fetal v0.161 C2CD3 Zornitza Stark Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.160 C21orf2 Zornitza Stark Marked gene: C21orf2 as ready
Skeletal Dysplasia_Fetal v0.160 C21orf2 Zornitza Stark Gene: c21orf2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.160 C21orf2 Zornitza Stark Phenotypes for gene: C21orf2 were changed from to Spondylometaphyseal dysplasia, axial, MIM# 602271
Skeletal Dysplasia_Fetal v0.159 C21orf2 Zornitza Stark Publications for gene: C21orf2 were set to
Skeletal Dysplasia_Fetal v0.158 C21orf2 Zornitza Stark Mode of inheritance for gene: C21orf2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.157 FGFR1 Zornitza Stark Marked gene: FGFR1 as ready
Skeletal Dysplasia_Fetal v0.157 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.157 FGFR1 Zornitza Stark Publications for gene: FGFR1 were set to
Skeletal Dysplasia_Fetal v0.156 FGFR1 Zornitza Stark Classified gene: FGFR1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.156 FGFR1 Zornitza Stark Gene: fgfr1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Marked gene: EXTL3 as ready
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Classified gene: EXTL3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.155 EXTL3 Zornitza Stark Gene: extl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali Deleted their comment
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali edited their review of gene: FGFR1: Added comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.; Changed publications: PMID: 16470795, PMID: 15625620, PMID: 29147600, PMID: 20339250
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali changed review comment from: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.
Sources: Literature; to: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.
Sources: Literature
Skeletal Dysplasia_Fetal v0.154 FGFR1 Krithika Murali gene: FGFR1 was added
gene: FGFR1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGFR1 were set to Osteoglophonic dysplasia-MIM#166250
Review for gene: FGFR1 was set to GREEN
Added comment: OGD is a rare, FGFR1-associated allelic disorder - primordial dwarfism and rhizomelia are notable features. Recurrent variants reported e.g. Cys381Arg.
Sources: Literature
Skeletal Dysplasia_Fetal v0.154 EXTL3 Krithika Murali gene: EXTL3 was added
gene: EXTL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to PMID: 28132690
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities - MIM#617425
Review for gene: EXTL3 was set to GREEN
Added comment: Disproportionate short stature with limb shortening and death in the neonatal period reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Marked gene: DVL3 as ready
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Classified gene: DVL3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.154 DVL3 Zornitza Stark Gene: dvl3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Marked gene: DVL1 as ready
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Classified gene: DVL1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.153 DVL1 Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.152 DNMT3A Zornitza Stark Marked gene: DNMT3A as ready
Skeletal Dysplasia_Fetal v0.152 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.152 DNMT3A Zornitza Stark Phenotypes for gene: DNMT3A were changed from to Heyn-Sproul-Jackson syndrome, MIM# 618724
Skeletal Dysplasia_Fetal v0.151 DNMT3A Zornitza Stark Classified gene: DNMT3A as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.151 DNMT3A Zornitza Stark Gene: dnmt3a has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.150 DNMT3A Zornitza Stark reviewed gene: DNMT3A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Heyn-Sproul-Jackson syndrome, MIM# 618724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.150 DVL3 Krithika Murali gene: DVL3 was added
gene: DVL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL3 were set to 25577943
Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3-MIM#616894
Review for gene: DVL3 was set to GREEN
Added comment: Detection of short stature antenatally and mesomelia at birth reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.150 DVL1 Krithika Murali gene: DVL1 was added
gene: DVL1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: DVL1 were set to 25817014; 25817016
Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 (MIM#616331)
Review for gene: DVL1 was set to GREEN
gene: DVL1 was marked as current diagnostic
Added comment: Previous review by Belinda Chong:

Onset at birth - Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly . Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2.

Only variants that result in truncation (located in the final 2 exons) have been reported as pathogenic. Pathogenic truncating variants that escape NMD have been shown to result in a gain of function with increased canonical WNT activity. The paternal allele is predicted to be imprinted, with the maternal allele expressed (geneimprint.com), however reports so far have been for de novo variants.
Sources: Literature
Skeletal Dysplasia_Fetal v0.150 DNMT3A Krithika Murali gene: DNMT3A was added
gene: DNMT3A was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: DNMT3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNMT3A were set to 30478443
Review for gene: DNMT3A was set to AMBER
Added comment: Two allelic syndromes, with LOF variants causing an overgrowth syndrome, and GOF variants causimg a primordial dwarfism syndrome.

The primordial dwarfism phenotype is associated with proportionate IUGR antenatally with more evident postnatal growth failure and microcephaly.
Sources: Literature
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Marked gene: DHCR24 as ready
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Classified gene: DHCR24 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.150 DHCR24 Zornitza Stark Gene: dhcr24 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.149 DHCR24 Zornitza Stark changed review comment from: Uncertain whether it would present antenatally predominantly with the skeletal findings.; to: Uncertain whether it would present antenatally predominantly with the skeletal findings. Appropriately rated Green on Fetal Anomalies.
Skeletal Dysplasia_Fetal v0.149 DHCR24 Zornitza Stark reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Desmosterolosis - MIM#602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.149 DDR2 Zornitza Stark Marked gene: DDR2 as ready
Skeletal Dysplasia_Fetal v0.149 DDR2 Zornitza Stark Gene: ddr2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.149 DDR2 Zornitza Stark Phenotypes for gene: DDR2 were changed from to Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665
Skeletal Dysplasia_Fetal v0.148 DDR2 Zornitza Stark Publications for gene: DDR2 were set to
Skeletal Dysplasia_Fetal v0.147 DDR2 Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.146 DHCR24 Krithika Murali gene: DHCR24 was added
gene: DHCR24 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR24 were set to PMID: 21671375
Phenotypes for gene: DHCR24 were set to Desmosterolosis - MIM#602398
Review for gene: DHCR24 was set to GREEN
Added comment: Although contractures are the more prominent antenatal feature, rhizomesomelia diagnosed at birth has been described.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Marked gene: CTSK as ready
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Classified gene: CTSK as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.146 CTSK Zornitza Stark Gene: ctsk has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Marked gene: CUL7 as ready
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Classified gene: CUL7 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.145 CUL7 Zornitza Stark Gene: cul7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Marked gene: CYP26B1 as ready
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Classified gene: CYP26B1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.144 CYP26B1 Zornitza Stark Gene: cyp26b1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.143 CYP26B1 Krithika Murali gene: CYP26B1 was added
gene: CYP26B1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP26B1 were set to PMID: 22019272
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies - MIM# 614416
Review for gene: CYP26B1 was set to GREEN
Added comment: Fetal death in utero reported in this condition which is associated with prominent craniofacial malformations. Prenatal shortening of the upper and lower limbs with pronounced angulation also described.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.143 CUL7 Krithika Murali changed review comment from: Severe prenatal growth restriction and shortened long bones described.

Please note, prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.
Sources: Literature, Expert list; to: Severe prenatal growth restriction and shortened long bones described.

Prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.

Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.143 CUL7 Krithika Murali gene: CUL7 was added
gene: CUL7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUL7 were set to 20301654; 26850509; 17675530
Phenotypes for gene: CUL7 were set to 3-M syndrome 1 - MIM#273750; Yakut short stature syndrome
Review for gene: CUL7 was set to GREEN
Added comment: Severe prenatal growth restriction and shortened long bones described.

Please note, prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.143 CTSK Krithika Murali gene: CTSK was added
gene: CTSK was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSK were set to PMID: 33151655
Phenotypes for gene: CTSK were set to Pycnodysostosis - MIM#265800
Review for gene: CTSK was set to GREEN
Added comment: ~30% with prenatal onset short-limbed short stature
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Marked gene: COG1 as ready
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Gene: cog1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Classified gene: COG1 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.143 COG1 Zornitza Stark Gene: cog1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.142 COG1 Krithika Murali gene: COG1 was added
gene: COG1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COG1 were set to 16537452; 19008299; 17904886; 11980916; 18462449
Phenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg - MIM#611209
Review for gene: COG1 was set to AMBER
Added comment: IUGR known feature - but disproportionate impact on length and rhizomelia only reported in the literature in early infancy rather than prenatally.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Marked gene: CHST3 as ready
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Classified gene: CHST3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.142 CHST3 Zornitza Stark Gene: chst3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Marked gene: CCDC8 as ready
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Classified gene: CCDC8 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.141 CCDC8 Zornitza Stark Gene: ccdc8 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.140 CHST3 Krithika Murali gene: CHST3 was added
gene: CHST3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 15368507; 17618475
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations-MIM#143095
Review for gene: CHST3 was set to GREEN
Added comment: Severe short stature of prenatal onset with disproportionately shortened limbs.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.140 CCDC8 Krithika Murali gene: CCDC8 was added
gene: CCDC8 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3 - MIM#614205
Review for gene: CCDC8 was set to GREEN
Added comment: Severe short stature with relative macrocephaly/preserved HC noted antenatally and at birth.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.140 IMPAD1 Krithika Murali gene: IMPAD1 was added
gene: IMPAD1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IMPAD1 were set to 34989141
Phenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078
Review for gene: IMPAD1 was set to GREEN
Added comment: Disproportionately shortened length prenatally with shortened limbs described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.140 B4GALT7 Krithika Murali gene: B4GALT7 was added
gene: B4GALT7 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 31278392
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1-MIM#130070
Review for gene: B4GALT7 was set to GREEN
Added comment: Perinatal lethal skeletal dysplasia described
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.140 B3GLCT Krithika Murali gene: B3GLCT was added
gene: B3GLCT was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GLCT were set to 23161355
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome-MIM#261540
Review for gene: B3GLCT was set to GREEN
Added comment: IUGR with shortening of the long bones diagnosed antenatally reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.140 B3GAT3 Krithika Murali gene: B3GAT3 was added
gene: B3GAT3 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 26754439; 31988067
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600
Added comment: Antenatal presentation with shortened and bowed long bones described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.140 ALG9 Krithika Murali gene: ALG9 was added
gene: ALG9 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG9 were set to 28932688; 25966638; 26453364
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210
Review for gene: ALG9 was set to GREEN
Added comment: Lethal skeletal dysplasia in utero reported
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.140 ALG3 Krithika Murali gene: ALG3 was added
gene: ALG3 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG3 were set to 26126960; 34441372
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id - MIM#26126960
Review for gene: ALG3 was set to GREEN
Added comment: Antenatal presentation with IUGR and short long bones/limbs reported.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Marked gene: ADAMTSL2 as ready
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Classified gene: ADAMTSL2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.140 ADAMTSL2 Zornitza Stark Gene: adamtsl2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Marked gene: ACAN as ready
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Classified gene: ACAN as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.139 ACAN Zornitza Stark Gene: acan has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Marked gene: ACP5 as ready
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Classified gene: ACP5 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.138 ACP5 Zornitza Stark Gene: acp5 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.137 ADAMTSL2 Krithika Murali gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL2 were set to 20301776; 21415077
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1-MIM#231050
Review for gene: ADAMTSL2 was set to GREEN
Added comment: Disproportionate growth restriction affecting length has been detected in the antenatal period

--
Variants in this gene cause a multi-system disorder involving the skeleton, skin, joints, and heart; perinatal presentation with skeletal and heart features reported. Multiple families reported.
Sources: Literature
Skeletal Dysplasia_Fetal v0.137 ACAN Krithika Murali gene: ACAN was added
gene: ACAN was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ACAN were set to 24762113; 27870580; 19110214; 30124491; 28331218; 20137779
Phenotypes for gene: ACAN were set to Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM# 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM# 165800
Review for gene: ACAN was set to GREEN
Added comment: Spondyloepimetaphyseal dysplasia, aggrecan type is biallelic and associated with more severe skeletal phenotype likely to be detectable in fetal period.

Patients with SSOAD (monoallelic) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Patients born with low-normal birth length. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations.
Sources: Literature
Skeletal Dysplasia_Fetal v0.137 ACP5 Krithika Murali gene: ACP5 was added
gene: ACP5 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 26854080; 26951490; 21217755; 26789720; 2363422; 21217752
Phenotypes for gene: ACP5 were set to Spondyloenchondrodysplasia with immune dysregulation, OMIM# 607944
Review for gene: ACP5 was set to GREEN
Added comment: Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency.

Multiple reports in literature. Well established disease gene.

Skeletal findings likely to be seen in fetal period
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Marked gene: TAB2 as ready
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Classified gene: TAB2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.137 TAB2 Seb Lunke Gene: tab2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.136 TAB2 Belinda Chong gene: TAB2 was added
gene: TAB2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAB2 were set to 34456334; 36000780
Phenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)
Review for gene: TAB2 was set to GREEN
gene: TAB2 was marked as current diagnostic
Added comment: PMID 36000780 - 3-generation family with caudal appendage and other sacral anomalies, as well as skeletal abnormalities including hypoplasia of iliac wings and scapulae, fusion of the carpal bones, and stenosis of the spinal canal.
Sources: Literature
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Marked gene: NANS as ready
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Classified gene: NANS as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.136 NANS Zornitza Stark Gene: nans has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Marked gene: NBAS as ready
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Classified gene: NBAS as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.135 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Marked gene: NPR2 as ready
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Gene: npr2 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Classified gene: NPR2 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.134 NPR2 Zornitza Stark Gene: npr2 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.133 NPR2 Zornitza Stark reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acromesomelic dysplasia 1, Maroteaux type - MIM#602875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.133 NPR2 Zornitza Stark Classified gene: NPR2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.133 NPR2 Zornitza Stark Gene: npr2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Classified gene: PAM16 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.132 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Marked gene: PCNT as ready
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Classified gene: PCNT as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.131 PCNT Zornitza Stark Gene: pcnt has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Marked gene: POC1A as ready
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Classified gene: POC1A as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.130 POC1A Zornitza Stark Gene: poc1a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Marked gene: POP1 as ready
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Classified gene: POP1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.129 POP1 Zornitza Stark Gene: pop1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Marked gene: ROR2 as ready
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Classified gene: ROR2 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.128 ROR2 Zornitza Stark Gene: ror2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Marked gene: SHOX as ready
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Classified gene: SHOX as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.127 SHOX Zornitza Stark Gene: shox has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Marked gene: SLC10A7 as ready
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Classified gene: SLC10A7 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.126 SLC10A7 Zornitza Stark Gene: slc10a7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Marked gene: SLC29A3 as ready
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Classified gene: SLC29A3 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.125 SLC29A3 Zornitza Stark Gene: slc29a3 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Classified gene: SMAD4 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.124 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Marked gene: SMARCAL1 as ready
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Classified gene: SMARCAL1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.123 SMARCAL1 Zornitza Stark Gene: smarcal1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Marked gene: TBX15 as ready
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Gene: tbx15 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Classified gene: TBX15 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.122 TBX15 Zornitza Stark Gene: tbx15 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.121 NANS Krithika Murali gene: NANS was added
gene: NANS was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NANS were set to 34163424
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type-MIM#610442; NANS-CDG
Review for gene: NANS was set to GREEN
Added comment: Short stature with short limbs is a feature of this condition with intrauterine growth restriction of the limbs reported.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 NBAS Krithika Murali gene: NBAS was added
gene: NBAS was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to 33042920
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly - MIM#614800
Review for gene: NBAS was set to GREEN
Added comment: Antenatal detection of limb shortening has been reported.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 NPR2 Krithika Murali gene: NPR2 was added
gene: NPR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR2 were set to 31555216; 16384845; 15146390; 22870295; 24057292; 24259409; 16384845; 24471569
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia 1, Maroteaux type - MIM#602875
Review for gene: NPR2 was set to GREEN
Added comment: Biallelic LoF variants associated with AMDM, a disorder characterised by severe dwarfism with disproportionate shortening of the middle and distal segments of the limbs. Shortening of the limbs may be detected antenatally.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 PAM16 Krithika Murali gene: PAM16 was added
gene: PAM16 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Review for gene: PAM16 was set to GREEN
Added comment: Severe prenatal short stature, narrow chest, prominent abdomen, and short limbs are reported features.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 PCNT Krithika Murali gene: PCNT was added
gene: PCNT was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCNT were set to 34978779
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II - MIM#210720
Review for gene: PCNT was set to GREEN
Added comment: Primordial dwarfism with significant prenatal growth restriction and mesomelia reported.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 POC1A Krithika Murali gene: POC1A was added
gene: POC1A was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POC1A were set to 31630891; 31630891; 30569574
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813
Review for gene: POC1A was set to GREEN
Added comment: Primordial dwarfism characterised by disproportionate severe short stature prenatal in onset.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 POP1 Krithika Murali gene: POP1 was added
gene: POP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POP1 were set to 21455487; 27380734; 28067412
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561
Review for gene: POP1 was set to GREEN
Added comment: Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 ROR2 Krithika Murali gene: ROR2 was added
gene: ROR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ROR2 were set to 20301418; 31617258; 24932600
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive - MIM#268310
Review for gene: ROR2 was set to GREEN
Added comment: Antenatal findings of acromesomelia reported with Robinow syndrome.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 SHOX Krithika Murali gene: SHOX was added
gene: SHOX was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: SHOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHOX were set to 29330548
Phenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700
Review for gene: SHOX was set to GREEN
Added comment: Deletions common. Pseudoautosomal dominant inheritance as SHOX gene located on the pseudoautosomal region of X and Y chromosome.

PMID 29330548 report 5 unrelated infants with antenatally detected isolated short long bones attributable to SHOX haploinsufficiency.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 SLC10A7 Krithika Murali gene: SLC10A7 was added
gene: SLC10A7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A7 were set to 30082715
Phenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363
Review for gene: SLC10A7 was set to GREEN
Added comment: Prenatal diagnosis of short long bones reported in addition to IUGR disproportionately impacting length.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 SLC29A3 Krithika Murali gene: SLC29A3 was added
gene: SLC29A3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC29A3 were set to 16155931
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome - MIM#602782
Review for gene: SLC29A3 was set to GREEN
Added comment: Intrauterine fractures of long bones and clavicles described.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 SMAD4 Krithika Murali gene: SMAD4 was added
gene: SMAD4 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD4 were set to 28406602
Phenotypes for gene: SMAD4 were set to Myhre syndrome - OMIM#139210; MONDO:0007688
Review for gene: SMAD4 was set to GREEN
Added comment: Myhre syndrome (variants involving codons 496 and 500) can be associated with IUGR and short long bones
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 SMARCAL1 Krithika Murali gene: SMARCAL1 was added
gene: SMARCAL1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMARCAL1 were set to 15523612; 20301550; 20301550; 17089404; 20036229
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia (MIM#242900)
Review for gene: SMARCAL1 was set to GREEN
Added comment: IUGR with disproportionately short trunk and neck described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.121 TBX15 Krithika Murali gene: TBX15 was added
gene: TBX15 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list
Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBX15 were set to 19068278; 24039145
Phenotypes for gene: TBX15 were set to Cousin syndrome - MIM#260660
Review for gene: TBX15 was set to GREEN
Added comment: Rhizomelic/mesomelic limb shortening described and other skeletal anomalies with possibility of prenatal detection.
Sources: Literature, Expert list
Skeletal Dysplasia_Fetal v0.121 Zornitza Stark removed gene:TRPS1 from the panel
Skeletal Dysplasia_Fetal v0.120 Zornitza Stark removed gene:TTC8 from the panel
Skeletal Dysplasia_Fetal v0.119 Zornitza Stark removed gene:TYROBP from the panel
Skeletal Dysplasia_Fetal v0.118 Zornitza Stark removed gene:USP9X from the panel
Skeletal Dysplasia_Fetal v0.117 Zornitza Stark removed gene:TWIST1 from the panel
Skeletal Dysplasia_Fetal v0.116 Zornitza Stark removed gene:UBA2 from the panel
Skeletal Dysplasia_Fetal v0.115 Zornitza Stark removed gene:TNFSF11 from the panel
Skeletal Dysplasia_Fetal v0.114 Zornitza Stark removed gene:TNFRSF11B from the panel
Skeletal Dysplasia_Fetal v0.113 Zornitza Stark removed gene:TONSL from the panel
Skeletal Dysplasia_Fetal v0.112 Zornitza Stark removed gene:TP63 from the panel
Skeletal Dysplasia_Fetal v0.111 WNT5A Zornitza Stark Marked gene: WNT5A as ready
Skeletal Dysplasia_Fetal v0.111 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.111 WNT5A Zornitza Stark Classified gene: WNT5A as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.111 WNT5A Zornitza Stark Gene: wnt5a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.110 Zornitza Stark removed gene:WNT10B from the panel
Skeletal Dysplasia_Fetal v0.109 Zornitza Stark removed gene:VDR from the panel
Skeletal Dysplasia_Fetal v0.108 Zornitza Stark removed gene:WISP3 from the panel
Skeletal Dysplasia_Fetal v0.107 Zornitza Stark removed gene:WNT7A from the panel
Skeletal Dysplasia_Fetal v0.105 Zornitza Stark removed gene:XRCC4 from the panel
Skeletal Dysplasia_Fetal v0.104 XYLT1 Zornitza Stark Marked gene: XYLT1 as ready
Skeletal Dysplasia_Fetal v0.104 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.104 XYLT1 Zornitza Stark Classified gene: XYLT1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.104 XYLT1 Zornitza Stark Gene: xylt1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.103 Zornitza Stark removed gene:XYLT2 from the panel
Skeletal Dysplasia_Fetal v0.102 Zornitza Stark removed gene:YY1 from the panel
Skeletal Dysplasia_Fetal v0.101 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Skeletal Dysplasia_Fetal v0.101 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.101 ZMPSTE24 Zornitza Stark Classified gene: ZMPSTE24 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.101 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.100 ZSWIM6 Zornitza Stark Marked gene: ZSWIM6 as ready
Skeletal Dysplasia_Fetal v0.100 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.100 ZSWIM6 Zornitza Stark Classified gene: ZSWIM6 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.100 ZSWIM6 Zornitza Stark Gene: zswim6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.99 Zornitza Stark removed gene:WDPCP from the panel
Skeletal Dysplasia_Fetal v0.98 Zornitza Stark removed gene:UFSP2 from the panel
Skeletal Dysplasia_Fetal v0.97 Zornitza Stark removed gene:TRAPPC2 from the panel
Skeletal Dysplasia_Fetal v0.96 Zornitza Stark removed gene:TREM2 from the panel
Skeletal Dysplasia_Fetal v0.95 TRPS1 Zornitza Stark Marked gene: TRPS1 as ready
Skeletal Dysplasia_Fetal v0.95 TRPS1 Zornitza Stark Gene: trps1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.95 TRPS1 Zornitza Stark Classified gene: TRPS1 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.95 TRPS1 Zornitza Stark Gene: trps1 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.94 TRPS1 Zornitza Stark reviewed gene: TRPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.94 TTC8 Zornitza Stark Marked gene: TTC8 as ready
Skeletal Dysplasia_Fetal v0.94 TTC8 Zornitza Stark Gene: ttc8 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.94 TTC8 Zornitza Stark Classified gene: TTC8 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.94 TTC8 Zornitza Stark Gene: ttc8 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.93 TTC8 Zornitza Stark reviewed gene: TTC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.93 TWIST1 Zornitza Stark Marked gene: TWIST1 as ready
Skeletal Dysplasia_Fetal v0.93 TWIST1 Zornitza Stark Gene: twist1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.93 TWIST1 Zornitza Stark Classified gene: TWIST1 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.93 TWIST1 Zornitza Stark Gene: twist1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.92 TWIST1 Zornitza Stark Tag for review tag was added to gene: TWIST1.
Skeletal Dysplasia_Fetal v0.92 TWIST1 Zornitza Stark reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Dysplasia_Fetal v0.92 TYROBP Zornitza Stark Marked gene: TYROBP as ready
Skeletal Dysplasia_Fetal v0.92 TYROBP Zornitza Stark Gene: tyrobp has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.92 TYROBP Zornitza Stark Classified gene: TYROBP as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.92 TYROBP Zornitza Stark Gene: tyrobp has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.91 ALPL Zornitza Stark Tag treatable tag was added to gene: ALPL.
Skeletal Dysplasia_Fetal v0.91 TNFRSF11B Krithika Murali gene: TNFRSF11B was added
gene: TNFRSF11B was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11B were set to 14672344
Phenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset - MIM#239000
Review for gene: TNFRSF11B was set to RED
Added comment: Onset of skeletal features in the first decade of life with prenatal anomalies not described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TNFSF11 Krithika Murali gene: TNFSF11 was added
gene: TNFSF11 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFSF11 were set to 17632511; 32048120; 10984520
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, MIM# 259710
Review for gene: TNFSF11 was set to RED
Added comment: Prenatal skeletal anomalies not described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TONSL Krithika Murali gene: TONSL was added
gene: TONSL was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 30773277; 30773278; 32959051
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510; spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0010068
Review for gene: TONSL was set to RED
Added comment: Prenatal skeletal anomalies not reported.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TP63 Krithika Murali gene: TP63 was added
gene: TP63 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TP63 were set to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289
Review for gene: TP63 was set to GREEN
Added comment: Skeletal anomalies including split hand foot malformation, missing metatarsals can be detected antenatally.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TRAPPC2 Krithika Murali gene: TRAPPC2 was added
gene: TRAPPC2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda -MIM#313400
Review for gene: TRAPPC2 was set to RED
Added comment: Prenatal features not described.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TREM2 Krithika Murali gene: TREM2 was added
gene: TREM2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREM2 were set to 12080485; 15883308
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 - MIM#618193
Review for gene: TREM2 was set to RED
Added comment: Associated with adult-onset skeletal anomalies
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TRPS1 Krithika Murali gene: TRPS1 was added
gene: TRPS1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TRPS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRPS1 were set to 25792522; 28426188
Phenotypes for gene: TRPS1 were set to Trichorhinophalangeal syndrome, type I - MIM#190350; Trichorhinophalangeal syndrome, type III - MIM#190351
Review for gene: TRPS1 was set to AMBER
Added comment: Prenatal diagnosis not described in the literature PMID 25792522 report 4/24 patients in a cohort as having <-2SD birth length.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TTC8 Krithika Murali gene: TTC8 was added
gene: TTC8 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTC8 were set to 14520415; 19797195
Phenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8 - MIM#615985
Review for gene: TTC8 was set to GREEN
Added comment: Polydactyly is an associated skeletal feature amenable to prenatal detection.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TWIST1 Krithika Murali gene: TWIST1 was added
gene: TWIST1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TWIST1 were set to 17343269; 9585583; 12116251; 31299755; 30040876
Phenotypes for gene: TWIST1 were set to Craniosynostosis 1 - MIM#123100; Saethre-Chotzen syndrome with or without eyelid anomalies - MIM# 101400; Sweeny-Cox syndrome - MIM# 617746; Robinow-Sorauf syndrome - MIM#180750
Review for gene: TWIST1 was set to GREEN
gene: TWIST1 was marked as current diagnostic
Added comment: Some skeletal features of TWIST1-associated disorders amenable to prenatal diagnosis - craniosynostosis (head shape anomalies on antenatal USS), digital anomalies (e.g. absent metatarsal), talipes equinovarus.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 TYROBP Krithika Murali gene: TYROBP was added
gene: TYROBP was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYROBP were set to 20301376
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1- MIM#221770
Review for gene: TYROBP was set to RED
Added comment: Associated with adult-onset skeletal anomalies (typically 3rd decade of life)
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 UBA2 Krithika Murali gene: UBA2 was added
gene: UBA2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267
Phenotypes for gene: UBA2 were set to ACCES syndrome-MIM#619959
Review for gene: UBA2 was set to GREEN
Added comment: Associated with skeletal anomalies amenable to antenatal detection including split hand/foot malformation, polydactyly and tibial deficiency.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 UFSP2 Krithika Murali changed review comment from: Reported skeletal anomalies reported not detectable in the prenatal setting.
Sources: Expert list, Literature; to: Reported skeletal anomalies not detectable in the prenatal setting.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 UFSP2 Krithika Murali gene: UFSP2 was added
gene: UFSP2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: UFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UFSP2 were set to 26428751; 28892125; 32755715
Phenotypes for gene: UFSP2 were set to Hip dysplasia, Beukes type, MIM#142669; Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974
Review for gene: UFSP2 was set to RED
Added comment: Reported skeletal anomalies reported not detectable in the prenatal setting.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 USP9X Krithika Murali gene: USP9X was added
gene: USP9X was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: USP9X were set to 31443933; 26833328
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, XLR (MIM#300919) and XLD (MIM#300968)
Review for gene: USP9X was set to GREEN
Added comment: Associated with skeletal anomalies - postaxial polydactyly may be detected on antenatal USS.
---
Gene-disease relationship is well-established. There are XLD (female-restricted) and XLR phenotypes.

Many (at least 17) females with de novo loss-of-function variants reported with a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations (PMID:26833328). Males are not reported with these variants (presumed embryonic lethal, as is the case in null mice).

Affected males (at least 12) have been reported with partial loss of function missense variants (PMID:31443933). Unaffected female carriers were reported in some of these families.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 VDR Krithika Murali gene: VDR was added
gene: VDR was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA - MIM#277440
Review for gene: VDR was set to RED
Added comment: Vitamin D-resistant rickets not presenting antenatally.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 WDPCP Krithika Murali gene: WDPCP was added
gene: WDPCP was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: WDPCP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDPCP were set to 20671153; 25427950; 32055034; 29588463; 28289185
Phenotypes for gene: WDPCP were set to Bardet-Biedl syndrome 15, MIM# 615992; OFD; Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Review for gene: WDPCP was set to GREEN
Added comment: Associated with ciliopathy phenotype, including skeletal anomalies such as polydactyly amenable to antenatal USS detection.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 WISP3 Krithika Murali gene: WISP3 was added
gene: WISP3 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WISP3 were set to 26610319
Phenotypes for gene: WISP3 were set to Progressive pseudorheumatoid dysplasia-MIM#208230
Review for gene: WISP3 was set to RED
Added comment: CCN6 HGNC approved name. Progressive childhood onset disorder. Prenatal features not described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 WNT10B Krithika Murali gene: WNT10B was added
gene: WNT10B was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: WNT10B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT10B were set to 20635353; 24211389; 27321946
Phenotypes for gene: WNT10B were set to Split-hand/foot malformation 6 - MIM#225300
Review for gene: WNT10B was set to GREEN
Added comment: Biallelic variants associated with split hand/foot malformation. Reported in >3 unrelated families, with a Pakistani bias. Detectable on antenatal ultrasound.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 WNT5A Krithika Murali gene: WNT5A was added
gene: WNT5A was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature
Mode of inheritance for gene: WNT5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WNT5A were set to 17256787
Phenotypes for gene: WNT5A were set to Robinow syndrome, autosomal dominant 1; OMIM# 180700
Review for gene: WNT5A was set to GREEN
Added comment: Associated mesomelic/rhizomelic can be detected prenatally.
Sources: Expert list, Literature
Skeletal Dysplasia_Fetal v0.91 WNT7A Krithika Murali gene: WNT7A was added
gene: WNT7A was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WNT7A were set to 21344627; 20949531; 16826533
Phenotypes for gene: WNT7A were set to Fuhrmann syndrome, MIM# 228930; Ulna and fibula, absence of, with severe limb deficiency, MIM# 276820
Review for gene: WNT7A was set to GREEN
Added comment: Associated limb anomalies amenable to prenatal detection
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 XRCC4 Krithika Murali gene: XRCC4 was added
gene: XRCC4 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC4 were set to 32524007; 25728776; 25839420
Phenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction (MIM#616541)
Review for gene: XRCC4 was set to GREEN
Added comment: Prenatal-onset severe global growth failure consistently described
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 XYLT1 Krithika Murali gene: XYLT1 was added
gene: XYLT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: XYLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT1 were set to 35081921; 30554721; 24581741; 23982343
Phenotypes for gene: XYLT1 were set to Desbuquois dysplasia 2, MIM# 615777; Baratela-Scott syndrome
Review for gene: XYLT1 was set to GREEN
Added comment: Prenatally detected skeletal anomalies such as short long bones described.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 XYLT2 Krithika Murali gene: XYLT2 was added
gene: XYLT2 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26027496; 26987875; 30891060; 34925453; 35186392
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM# 605822
Review for gene: XYLT2 was set to AMBER
Added comment: Prenatal skeletal manifestations not described in the published literature. Early onset scoliosis and fractures reported, including in children <12 months old.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 ZSWIM6 Krithika Murali changed review comment from: AFND has multiple clinical features amenable to prenatal diagnosis including hypertelorism, nasal malformation, cleft palate, preaxial polydactyly, lower limb malformation, talipes equinovarus and CNS anomalies. Prenatal diagnosis has been reported in the published literature (PMID: 33776626).
Sources: Literature; to: AFND has multiple skeletal features amenable to prenatal diagnosis including preaxial polydactyly, mesomelic shortening and lower limb malformations. Prenatal diagnosis on the basis of skeletal features and other anomalies has been reported in the published literature (PMID: 33776626).

Sources: Literature
Skeletal Dysplasia_Fetal v0.91 YY1 Krithika Murali gene: YY1 was added
gene: YY1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to PMID 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome - MIM#617557
Review for gene: YY1 was set to GREEN
Added comment: Skeletal anomalies that may be detected prenatally reported including hemihypertrophy of the lower limb, distal arthrogryposis and craniosynostosis.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 ZMPSTE24 Krithika Murali gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 11923874; 22718200; 29794150; 29208544; 12913070; 27410998; 27409638; 15937076; 16671095; 22718200; 29794150; 24169522
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074; Restrictive dermopathy, lethal, MIM# 275210; MONDO:0010143
Review for gene: ZMPSTE24 was set to GREEN
Added comment: Severity of disease correlates with residual enzyme activity.

Mandibuloacral dysplasia is the milder phenotype and is characterized by skeletal abnormalities including hypoplasia of the mandible and clavicles, acroosteolysis, cutaneous atrophy, and lipodystrophy. Results from one hylomorphic allele in trans with a second hylomorphic or null allele.

Hutchinson-Guildford progeria syndrome, atypical: limited evidence of association, 2 cases reported. Intermediate between the two more common phenotypes.

Restrictive dermatopathy, lethal: results from bi-allelic null alleles, tautness of the skin causes fetal akinesia or hypokinesia deformation sequence. 44 families reported, p.Leu362Phefs*18 identified in ~60%, founder effect in Mennonite and Hutterite populations.
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 ZSWIM6 Krithika Murali gene: ZSWIM6 was added
gene: ZSWIM6 was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to PMID: 33776626
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis - MIM#603671
Review for gene: ZSWIM6 was set to GREEN
Added comment: AFND has multiple clinical features amenable to prenatal diagnosis including hypertelorism, nasal malformation, cleft palate, preaxial polydactyly, lower limb malformation, talipes equinovarus and CNS anomalies. Prenatal diagnosis has been reported in the published literature (PMID: 33776626).
Sources: Literature
Skeletal Dysplasia_Fetal v0.91 BMPER Zornitza Stark Marked gene: BMPER as ready
Skeletal Dysplasia_Fetal v0.91 BMPER Zornitza Stark Gene: bmper has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.91 BMPER Zornitza Stark Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022
Skeletal Dysplasia_Fetal v0.90 BMPER Zornitza Stark Publications for gene: BMPER were set to
Skeletal Dysplasia_Fetal v0.89 BMPER Zornitza Stark Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.88 MMP9 Zornitza Stark Classified gene: MMP9 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.88 MMP9 Zornitza Stark Gene: mmp9 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.87 MMP9 Zornitza Stark changed review comment from: Relatively mild skeletal dysplasia, unsure if it would be apparent antenatally.; to: Relatively mild skeletal dysplasia, limited reports. However, at least one case report of antenatal presentation, PMID 36035187.
Skeletal Dysplasia_Fetal v0.87 MMP9 Zornitza Stark edited their review of gene: MMP9: Changed rating: GREEN; Changed publications: 36035187
Skeletal Dysplasia_Fetal v0.87 BMP1 Zornitza Stark Marked gene: BMP1 as ready
Skeletal Dysplasia_Fetal v0.87 BMP1 Zornitza Stark Gene: bmp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.87 BMP1 Zornitza Stark Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856
Skeletal Dysplasia_Fetal v0.86 BMP1 Zornitza Stark Publications for gene: BMP1 were set to
Skeletal Dysplasia_Fetal v0.85 BMP1 Zornitza Stark Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.84 ARSE Zornitza Stark changed review comment from: Well established gene-disease association. Note HGNC approved name is ARSL.; to: Well established gene-disease association. Note HGNC approved name is ARSL.

Can present antenatally.
Skeletal Dysplasia_Fetal v0.84 ALPL Zornitza Stark changed review comment from: Severe forms of hypophosphatasia (perinatal and infantile) are generally associated with autosomal recessive disease, while the milder forms of hypophosphatasia (childhood, adult and odonto) have been associated with both autosomal dominant and recessive disease (PMID: 19500388, 23688511). Loss of function and dominant negative have both been reported as mechanisms of disease for this gene (ClinVar, PMID: 19500388).; to: Severe forms of hypophosphatasia (perinatal and infantile) are generally associated with autosomal recessive disease, while the milder forms of hypophosphatasia (childhood, adult and odonto) have been associated with both autosomal dominant and recessive disease (PMID: 19500388, 23688511). Loss of function and dominant negative have both been reported as mechanisms of disease for this gene (ClinVar, PMID: 19500388).

The severe infantile form is perinatal lethal.
Skeletal Dysplasia_Fetal v0.84 AGPS Zornitza Stark Marked gene: AGPS as ready
Skeletal Dysplasia_Fetal v0.84 AGPS Zornitza Stark Gene: agps has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.84 AGPS Zornitza Stark Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121
Skeletal Dysplasia_Fetal v0.83 AGPS Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.82 MMP13 Zornitza Stark Phenotypes for gene: MMP13 were changed from Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400) to Metaphyseal anadysplasia 1 (MIM#602111)
Skeletal Dysplasia_Fetal v0.81 MMP13 Zornitza Stark Mode of inheritance for gene: MMP13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.80 MMP13 Zornitza Stark Classified gene: MMP13 as Red List (low evidence)
Skeletal Dysplasia_Fetal v0.80 MMP13 Zornitza Stark Gene: mmp13 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.79 MMP13 Zornitza Stark reviewed gene: MMP13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 1, MIM# 602111; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.78 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Skeletal Dysplasia_Fetal v0.78 MNX1 Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.78 MNX1 Zornitza Stark Classified gene: MNX1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.78 MNX1 Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.77 MNX1 Zornitza Stark gene: MNX1 was added
gene: MNX1 was added to Skeletal Dysplasia_Fetal. Sources: Expert Review
Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MNX1 were set to 32571425; 33836786; 11528505
Phenotypes for gene: MNX1 were set to Currarino syndrome, MIM# 176450
Review for gene: MNX1 was set to GREEN
Added comment: Well established gene-disease association. Sacral agenesis and associated abnormalities can be evident on antenatal ultrasound.
Sources: Expert Review
Skeletal Dysplasia_Fetal v0.76 MMP9 Zornitza Stark Marked gene: MMP9 as ready
Skeletal Dysplasia_Fetal v0.76 MMP9 Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.76 MMP9 Zornitza Stark Phenotypes for gene: MMP9 were changed from to Metaphyseal anadysplasia 2 - MIM# 613073
Skeletal Dysplasia_Fetal v0.75 MMP9 Zornitza Stark Publications for gene: MMP9 were set to
Skeletal Dysplasia_Fetal v0.74 MMP9 Zornitza Stark Mode of inheritance for gene: MMP9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.73 MMP9 Zornitza Stark Classified gene: MMP9 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.73 MMP9 Zornitza Stark Gene: mmp9 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.72 MMP13 Zornitza Stark Marked gene: MMP13 as ready
Skeletal Dysplasia_Fetal v0.72 MMP13 Zornitza Stark Gene: mmp13 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.72 MMP13 Zornitza Stark Phenotypes for gene: MMP13 were changed from to Metaphyseal anadysplasia 1 (MIM#602111); Metaphyseal dysplasia, Spahr type (MIM#250400)
Skeletal Dysplasia_Fetal v0.71 MMP13 Zornitza Stark Publications for gene: MMP13 were set to
Skeletal Dysplasia_Fetal v0.70 MMP13 Zornitza Stark Mode of inheritance for gene: MMP13 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.69 MESP2 Zornitza Stark Marked gene: MESP2 as ready
Skeletal Dysplasia_Fetal v0.69 MESP2 Zornitza Stark Gene: mesp2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.69 MESP2 Zornitza Stark Phenotypes for gene: MESP2 were changed from to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)
Skeletal Dysplasia_Fetal v0.68 MESP2 Zornitza Stark Publications for gene: MESP2 were set to
Skeletal Dysplasia_Fetal v0.67 MESP2 Zornitza Stark Mode of inheritance for gene: MESP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.62 NKX3-2 Zornitza Stark Marked gene: NKX3-2 as ready
Skeletal Dysplasia_Fetal v0.62 NKX3-2 Zornitza Stark Gene: nkx3-2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.62 NKX3-2 Zornitza Stark Phenotypes for gene: NKX3-2 were changed from to Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)
Skeletal Dysplasia_Fetal v0.61 NKX3-2 Zornitza Stark Publications for gene: NKX3-2 were set to
Skeletal Dysplasia_Fetal v0.60 NKX3-2 Zornitza Stark Mode of inheritance for gene: NKX3-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.59 NKX3-2 Krithika Murali reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.58 TNFRSF11A Zornitza Stark Marked gene: TNFRSF11A as ready
Skeletal Dysplasia_Fetal v0.58 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.58 TNFRSF11A Zornitza Stark Classified gene: TNFRSF11A as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.58 TNFRSF11A Zornitza Stark Gene: tnfrsf11a has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.57 TNFRSF11A Krithika Murali gene: TNFRSF11A was added
gene: TNFRSF11A was added to Skeletal Dysplasia_Fetal. Sources: Literature
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301
Review for gene: TNFRSF11A was set to GREEN
Added comment: 8 patients from 7 unrelated families with severe osteoclast-poor osteopetrosis with homozygosity or compound heterozygosity for 7 different variants. The condition is associated with a defect in immunoglobulin production.

Although antenatal diagnosis not specifically reported for this gene, diagnosis of severe osteopetrosis antenatally and during early infancy has been reported, including cases with no causative variants identified (PMID 23085203)
Sources: Literature
Skeletal Dysplasia_Fetal v0.57 CEP120 Zornitza Stark Marked gene: CEP120 as ready
Skeletal Dysplasia_Fetal v0.57 CEP120 Zornitza Stark Gene: cep120 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.57 CEP120 Zornitza Stark Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Skeletal Dysplasia_Fetal v0.56 CEP120 Zornitza Stark Publications for gene: CEP120 were set to
Skeletal Dysplasia_Fetal v0.55 CEP120 Zornitza Stark Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.54 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome to Cranioectodermal dysplasia 1, MIM# 218330; MONDO:0021093; Beemer-Langer syndrome
Skeletal Dysplasia_Fetal v0.52 CSPP1 Zornitza Stark Marked gene: CSPP1 as ready
Skeletal Dysplasia_Fetal v0.52 CSPP1 Zornitza Stark Gene: cspp1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.52 CSPP1 Zornitza Stark Phenotypes for gene: CSPP1 were changed from to Joubert syndrome 21, MIM# 615636; MONDO:0014288
Skeletal Dysplasia_Fetal v0.51 CSPP1 Zornitza Stark Publications for gene: CSPP1 were set to
Skeletal Dysplasia_Fetal v0.50 CSPP1 Zornitza Stark Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.49 CSPP1 Zornitza Stark reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.49 DONSON Zornitza Stark Marked gene: DONSON as ready
Skeletal Dysplasia_Fetal v0.49 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.49 DONSON Zornitza Stark Classified gene: DONSON as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.49 DONSON Zornitza Stark Gene: donson has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.48 DONSON Zornitza Stark gene: DONSON was added
gene: DONSON was added to Skeletal Dysplasia_Fetal. Sources: Expert Review
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DONSON were set to 28191891; 28630177; 28191891
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230; MONDO:0009619
Review for gene: DONSON was set to GREEN
Added comment: MISSLA, MIM# 617604 is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly (-2.4 to -10.7 SD), variable short stature (-1.2 SD to -4 SD, although 1 individual had stature of -8.4 SD), and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development. At least 20 unrelated families reported.

Microcephaly-micromelia syndrome (MIM#251230), is a more severe disorder that usually results in intrauterine or perinatal death. Multiple affected individuals reported with homozygous c.1047-9A-G variant, from different ethnicities.
Sources: Expert Review
Skeletal Dysplasia_Fetal v0.47 EN1 Zornitza Stark Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217 to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark changed review comment from: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
Sources: Literature; to: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.

An additional fourth individual had cerebellar hypoplasia in addition to the skeletal phenotype, and a bi-allelic LoF variant.
Sources: Literature
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark edited their review of gene: EN1: Changed phenotypes: ENDOVE syndrome, limb-only type, MIM# 619217, ENDOVE syndrome, limb-brain type, MIM# 619218
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark Marked gene: EN1 as ready
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark Classified gene: EN1 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.46 EN1 Zornitza Stark Gene: en1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.45 EN1 Zornitza Stark gene: EN1 was added
gene: EN1 was added to Skeletal Dysplasia_Fetal. Sources: Literature
SV/CNV, 5'UTR tags were added to gene: EN1.
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217
Review for gene: EN1 was set to GREEN
Added comment: Three unrelated families reported (though two shown to be related by descent) with predominantly a skeletal phenotype comprising mesomelic shortening and deformation of the lower limbs due to severe hypoplasia of the tibia and fibula. This was accompanied by abnormalities of the digits of the hands and feet, with cutaneous and osseous syndactyly as well as dysplastic, missing, and/or volar nails. In addition, genitourinary anomalies were observed in some. Homozygous deletions identified in all, with the minimal deleted region being a 27-kb interval (chr2: 118,561,492-118,589,320) located approximately 300 kb upstream of the EN1 gene. Mouse model recapitulated the phenotype.
Sources: Literature
Skeletal Dysplasia_Fetal v0.44 GDF5 Zornitza Stark Phenotypes for gene: GDF5 were changed from to Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900)
Skeletal Dysplasia_Fetal v0.43 GDF5 Zornitza Stark Publications for gene: GDF5 were set to
Skeletal Dysplasia_Fetal v0.42 GDF5 Zornitza Stark Mode of pathogenicity for gene: GDF5 was changed from to Other
Skeletal Dysplasia_Fetal v0.41 GDF5 Zornitza Stark Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.40 GDF5 Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33333243; Phenotypes: Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Marked gene: CRTAP as ready
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Gene: crtap has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.40 CRTAP Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII MIM#610682
Skeletal Dysplasia_Fetal v0.39 CRTAP Zornitza Stark Publications for gene: CRTAP were set to
Skeletal Dysplasia_Fetal v0.38 CRTAP Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.37 CRTAP Zornitza Stark reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.37 TBX6 Zornitza Stark Marked gene: TBX6 as ready
Skeletal Dysplasia_Fetal v0.37 TBX6 Zornitza Stark Gene: tbx6 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.37 TBX6 Zornitza Stark Phenotypes for gene: TBX6 were changed from to Spondylocostal dysostosis 5, 122600
Skeletal Dysplasia_Fetal v0.36 TBX6 Zornitza Stark Publications for gene: TBX6 were set to
Skeletal Dysplasia_Fetal v0.35 TBX6 Zornitza Stark Mode of inheritance for gene: TBX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.34 TBX6 Zornitza Stark reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8954725, 20503311, 23335591, 25564734, 31015262, 30307510, 31015262; Phenotypes: Spondylocostal dysostosis 5, 122600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.34 IFT122 Zornitza Stark changed review comment from: Gene-disease association is supported both by case-level data (>10 families reported) and functional data.; to: Gene-disease association is supported both by case-level data (>10 families reported) and functional data. Severe prenatal presentation common.
Skeletal Dysplasia_Fetal v0.34 IFT122 Zornitza Stark Marked gene: IFT122 as ready
Skeletal Dysplasia_Fetal v0.34 IFT122 Zornitza Stark Gene: ift122 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.34 IFT122 Zornitza Stark Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome
Skeletal Dysplasia_Fetal v0.33 IFT122 Zornitza Stark Publications for gene: IFT122 were set to
Skeletal Dysplasia_Fetal v0.32 IFT122 Zornitza Stark Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.31 IFT122 Zornitza Stark reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493458, 23826986, 26792575, 29220510, 28370949, 27681595, 27681595; Phenotypes: Cranioectodermal dysplasia 1, MIM# 218330, Beemer-Langer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.31 TRIP11 Zornitza Stark Marked gene: TRIP11 as ready
Skeletal Dysplasia_Fetal v0.31 TRIP11 Zornitza Stark Gene: trip11 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.31 TRIP11 Zornitza Stark Phenotypes for gene: TRIP11 were changed from to Achondrogenesis, type IA, MIM# 200600
Skeletal Dysplasia_Fetal v0.30 TRIP11 Zornitza Stark Publications for gene: TRIP11 were set to
Skeletal Dysplasia_Fetal v0.29 TRIP11 Zornitza Stark Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.28 TRIP11 Zornitza Stark reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20089971; Phenotypes: Achondrogenesis, type IA, MIM# 200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.28 HYLS1 Zornitza Stark Marked gene: HYLS1 as ready
Skeletal Dysplasia_Fetal v0.28 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.28 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome (MIM#236680)
Skeletal Dysplasia_Fetal v0.27 HYLS1 Zornitza Stark Publications for gene: HYLS1 were set to
Skeletal Dysplasia_Fetal v0.26 HYLS1 Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.25 HYLS1 Zornitza Stark Classified gene: HYLS1 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.25 HYLS1 Zornitza Stark Gene: hyls1 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.24 HYLS1 Zornitza Stark Tag founder tag was added to gene: HYLS1.
Skeletal Dysplasia_Fetal v0.24 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774, 26830932; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.24 ARSE Zornitza Stark Phenotypes for gene: ARSE were changed from to Chondrodysplasia punctata, X-linked recessive, MIM# 302950
Skeletal Dysplasia_Fetal v0.23 ARSE Zornitza Stark Mode of inheritance for gene: ARSE was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Marked gene: ARSE as ready
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Gene: arse has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark Tag new gene name tag was added to gene: ARSE.
Skeletal Dysplasia_Fetal v0.22 ARSE Zornitza Stark reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked recessive, MIM# 302950; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Skeletal Dysplasia_Fetal v0.22 NEK9 Zornitza Stark Marked gene: NEK9 as ready
Skeletal Dysplasia_Fetal v0.22 NEK9 Zornitza Stark Gene: nek9 has been classified as Red List (Low Evidence).
Skeletal Dysplasia_Fetal v0.22 NEK9 Zornitza Stark Tag founder tag was added to gene: NEK9.
Skeletal Dysplasia_Fetal v0.22 NEK9 Zornitza Stark gene: NEK9 was added
gene: NEK9 was added to Skeletal Dysplasia_Fetal. Sources: Expert list
Mode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEK9 were set to 26908619
Phenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia
Review for gene: NEK9 was set to RED
Added comment: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.
Sources: Expert list
Skeletal Dysplasia_Fetal v0.21 ALPL Zornitza Stark Marked gene: ALPL as ready
Skeletal Dysplasia_Fetal v0.21 ALPL Zornitza Stark Gene: alpl has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.21 ALPL Zornitza Stark Phenotypes for gene: ALPL were changed from to Hypophosphatasia, infantile MIM# 241500
Skeletal Dysplasia_Fetal v0.20 ALPL Zornitza Stark Publications for gene: ALPL were set to
Skeletal Dysplasia_Fetal v0.19 ALPL Zornitza Stark Mode of inheritance for gene: ALPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.18 ALPL Zornitza Stark reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500388, 23688511; Phenotypes: Hypophosphatasia, infantile MIM# 241500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.18 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Skeletal Dysplasia_Fetal v0.18 COL1A1 Zornitza Stark Gene: col1a1 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.18 COL1A1 Zornitza Stark Phenotypes for gene: COL1A1 were changed from to Caffey disease, MIM#114000; Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060; Osteogenesis imperfecta, type I, MIM#166200; Osteogenesis imperfecta, type II, MIM#166210; Osteogenesis imperfecta, type III, MIM#259420; Osteogenesis imperfecta, type IV, MIM#166220
Skeletal Dysplasia_Fetal v0.17 COL1A1 Zornitza Stark Publications for gene: COL1A1 were set to
Skeletal Dysplasia_Fetal v0.16 COL1A1 Zornitza Stark Mode of pathogenicity for gene: COL1A1 was changed from to Other
Skeletal Dysplasia_Fetal v0.15 COL1A1 Zornitza Stark Mode of inheritance for gene: COL1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Dysplasia_Fetal v0.14 COL1A1 Chern Lim reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 12362985, 28956891; Phenotypes: Caffey disease, MIM#114000, Ehlers-Danlos syndrome, arthrochalasia type, 1, MIM#130060, Osteogenesis imperfecta, type I, MIM#166200, Osteogenesis imperfecta, type II, MIM#166210, Osteogenesis imperfecta, type III, MIM#259420, Osteogenesis imperfecta, type IV, MIM#166220; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal Dysplasia_Fetal v0.14 DHCR7 Zornitza Stark Marked gene: DHCR7 as ready
Skeletal Dysplasia_Fetal v0.14 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.14 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome, MIM#270400
Skeletal Dysplasia_Fetal v0.13 DHCR7 Zornitza Stark Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.12 DHCR7 Elena Savva reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.12 Zornitza Stark Panel name changed from Skeletal dysplasia Fetal_MelbourneGenomics_VCGS to Skeletal Dysplasia_Fetal
Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Marked gene: MESD as ready
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Classified gene: MESD as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.11 MESD Zornitza Stark Gene: mesd has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.10 MESD Zornitza Stark gene: MESD was added
gene: MESD was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Other
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644
Review for gene: MESD was set to GREEN
Added comment: Five unrelated families reported.
Sources: Other
Skeletal Dysplasia_Fetal v0.9 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.9 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.8 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.8 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.7 IFT81 Zornitza Stark Publications for gene: IFT81 were set to 27666822
Skeletal Dysplasia_Fetal v0.6 IFT81 Zornitza Stark Classified gene: IFT81 as Green List (high evidence)
Skeletal Dysplasia_Fetal v0.6 IFT81 Zornitza Stark Gene: ift81 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.5 IFT81 Zornitza Stark Marked gene: IFT81 as ready
Skeletal Dysplasia_Fetal v0.5 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.5 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.4 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.3 IFT81 Zornitza Stark Mode of inheritance for gene: IFT81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.3 IFT81 Zornitza Stark Phenotypes for gene: IFT81 were changed from to Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895
Skeletal Dysplasia_Fetal v0.2 IFT81 Zornitza Stark Publications for gene: IFT81 were set to
Skeletal Dysplasia_Fetal v0.1 IFT81 Zornitza Stark Classified gene: IFT81 as Amber List (moderate evidence)
Skeletal Dysplasia_Fetal v0.1 IFT81 Zornitza Stark Gene: ift81 has been classified as Amber List (Moderate Evidence).
Skeletal Dysplasia_Fetal v0.0 IFT81 Zornitza Stark reviewed gene: IFT81: Rating: AMBER; Mode of pathogenicity: None; Publications: 27666822; Phenotypes: Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.0 WNT1 Zornitza Stark gene: WNT1 was added
gene: WNT1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WNT1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 WDR60 Zornitza Stark gene: WDR60 was added
gene: WDR60 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR60 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 WDR35 Zornitza Stark gene: WDR35 was added
gene: WDR35 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR35 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 WDR34 Zornitza Stark gene: WDR34 was added
gene: WDR34 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR34 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 WDR19 Zornitza Stark gene: WDR19 was added
gene: WDR19 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WDR19 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTC21B was set to Unknown
Skeletal Dysplasia_Fetal v0.0 TRPV6 Zornitza Stark gene: TRPV6 was added
gene: TRPV6 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPV6 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 TRPV4 Zornitza Stark gene: TRPV4 was added
gene: TRPV4 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRPV4 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 TRIP11 Zornitza Stark gene: TRIP11 was added
gene: TRIP11 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TRIP11 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 TMEM38B Zornitza Stark gene: TMEM38B was added
gene: TMEM38B was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM38B was set to Unknown
Skeletal Dysplasia_Fetal v0.0 TCTN3 Zornitza Stark gene: TCTN3 was added
gene: TCTN3 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTN3 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 TCTEX1D2 Zornitza Stark gene: TCTEX1D2 was added
gene: TCTEX1D2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TCTEX1D2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 TBX6 Zornitza Stark gene: TBX6 was added
gene: TBX6 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX6 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 SP7 Zornitza Stark gene: SP7 was added
gene: SP7 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SP7 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 SOX9 Zornitza Stark gene: SOX9 was added
gene: SOX9 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX9 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC35D1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC26A2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINH1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SERPINF1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SBDS was set to Unknown
Skeletal Dysplasia_Fetal v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RNU4ATAC was set to Unknown
Skeletal Dysplasia_Fetal v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RMRP was set to Unknown
Skeletal Dysplasia_Fetal v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PTH1R was set to Unknown
Skeletal Dysplasia_Fetal v0.0 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPIB was set to Unknown
Skeletal Dysplasia_Fetal v0.0 PLS3 Zornitza Stark gene: PLS3 was added
gene: PLS3 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLS3 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLOD2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PEX7 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: P3H1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OFD1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NSDHL was set to Unknown
Skeletal Dysplasia_Fetal v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NKX3-2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEK1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 MMP9 Zornitza Stark gene: MMP9 was added
gene: MMP9 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMP9 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 MMP13 Zornitza Stark gene: MMP13 was added
gene: MMP13 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MMP13 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MESP2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRP5 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIFR was set to Unknown
Skeletal Dysplasia_Fetal v0.0 LFNG Zornitza Stark gene: LFNG was added
gene: LFNG was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LFNG was set to Unknown
Skeletal Dysplasia_Fetal v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LBR was set to Unknown
Skeletal Dysplasia_Fetal v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIF7 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KIAA0586 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: INPPL1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 IFT81 Zornitza Stark gene: IFT81 was added
gene: IFT81 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT81 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT80 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 IFT52 Zornitza Stark gene: IFT52 was added
gene: IFT52 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT52 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 IFT43 Zornitza Stark gene: IFT43 was added
gene: IFT43 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT43 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT172 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT140 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFT122 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 IFITM5 Zornitza Stark gene: IFITM5 was added
gene: IFITM5 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: IFITM5 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 ICK Zornitza Stark gene: ICK was added
gene: ICK was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ICK was set to Unknown
Skeletal Dysplasia_Fetal v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HYLS1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HSPG2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HES7 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GNPAT was set to Unknown
Skeletal Dysplasia_Fetal v0.0 GLI3 Zornitza Stark gene: GLI3 was added
gene: GLI3 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLI3 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GDF5 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLNB was set to Unknown
Skeletal Dysplasia_Fetal v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FLNA was set to Unknown
Skeletal Dysplasia_Fetal v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FKBP10 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 FGFR3 Zornitza Stark gene: FGFR3 was added
gene: FGFR3 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR3 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 FGFR2 Zornitza Stark gene: FGFR2 was added
gene: FGFR2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM20C was set to Unknown
Skeletal Dysplasia_Fetal v0.0 FAM111A Zornitza Stark gene: FAM111A was added
gene: FAM111A was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FAM111A was set to Unknown
Skeletal Dysplasia_Fetal v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EVC2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EVC was set to Unknown
Skeletal Dysplasia_Fetal v0.0 EBP Zornitza Stark gene: EBP was added
gene: EBP was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: EBP was set to Unknown
Skeletal Dysplasia_Fetal v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DYNC2LI1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DYNC2H1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DLL3 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DHCR7 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DDR2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSPP1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRTAP was set to Unknown
Skeletal Dysplasia_Fetal v0.0 CREB3L1 Zornitza Stark gene: CREB3L1 was added
gene: CREB3L1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CREB3L1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 COL2A1 Zornitza Stark gene: COL2A1 was added
gene: COL2A1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL2A1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 COL1A2 Zornitza Stark gene: COL1A2 was added
gene: COL1A2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL1A2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 COL1A1 Zornitza Stark gene: COL1A1 was added
gene: COL1A1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL1A1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL11A2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COL11A1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C21orf2 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CEP120 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CANT1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C2CD3 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMPER was set to Unknown
Skeletal Dysplasia_Fetal v0.0 BMP1 Zornitza Stark gene: BMP1 was added
gene: BMP1 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMP1 was set to Unknown
Skeletal Dysplasia_Fetal v0.0 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARSE was set to Unknown
Skeletal Dysplasia_Fetal v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALPL was set to Unknown
Skeletal Dysplasia_Fetal v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGPS was set to Unknown
Skeletal Dysplasia_Fetal v0.0 Zornitza Stark Added panel Skeletal dysplasia Fetal_MelbourneGenomics_VCGS