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| Fetal anomalies v0.4517 | PRKAR1A | Zornitza Stark Phenotypes for gene: PRKAR1A were changed from ACRODYSOSTOSIS to Acrodysostosis 1, with or without hormone resistance, MIM#101800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4198 | SOST | Zornitza Stark Tag SV/CNV tag was added to gene: SOST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4142 | SOST | Seb Lunke Marked gene: SOST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4142 | SOST | Seb Lunke Gene: sost has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4142 | SOST |
Seb Lunke changed review comment from: Well established association with recessive Sclerosteosis 1 (OMIM#122860) characterised by overgrowth and multiple facial and skeletal abnormalities Dominant association with Craniodiaphyseal dysplasia (OMIM#122860) has been described in two indipendent patients only, with different missense variants at the same residue (V21M, V21L) NOTE: Common 52-kb deletion downstream of SOST (van Buchem disease, MIM#239100); to: Well established association with recessive Sclerosteosis 1 (OMIM#269500) characterised by overgrowth and multiple facial and skeletal abnormalities Dominant association with Craniodiaphyseal dysplasia (OMIM#122860) has been described in two indipendent patients only, with different missense variants at the same residue (V21M, V21L) NOTE: Common 52-kb deletion downstream of SOST (van Buchem disease, MIM#239100) |
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| Fetal anomalies v0.4142 | SOST | Seb Lunke Phenotypes for gene: SOST were changed from Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; SOST-Related Sclerosing Bone Dysplasias 122860 to Sclerosteosis 1, OMIM#269500; Craniodiaphyseal dysplasia, OMIM#122860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4141 | SOST | Seb Lunke reviewed gene: SOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301406, 35160258, 21221996, 17853455; Phenotypes: Sclerosteosis 1, OMIM#122860, Craniodiaphyseal dysplasia, OMIM#122860; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3523 | TBX6 | Zornitza Stark Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5 122600 to Spondylocostal dysostosis 5 , MIM#122600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3106 | RPS28 |
Krithika Murali gene: RPS28 was added gene: RPS28 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS28 were set to 24942156 Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164 Review for gene: RPS28 was set to AMBER Added comment: 2 unrelated families reported in 2014. Antenatally detectable phenotypic features included cleft palate, micrognathia, cardiac, auricular and renal anomalies Sources: Literature |
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| Fetal anomalies v0.3031 | POLR1A | Belinda Chong reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25913037, 28051070; Phenotypes: Acrofacial dysostosis, Cincinnati type, (MIM#616462); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2488 | ZSWIM6 | Zornitza Stark Phenotypes for gene: ZSWIM6 were changed from ACROMELIC FRONTONASAL DYSOSTOSIS to Acromelic frontonasal dysostosis (MIM#603671) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2484 | ZSWIM6 |
Zornitza Stark edited their review of gene: ZSWIM6: Added comment: Cleft palate and polydactyly are a feature of the skeletal disorder. Congenital anomalies are not a prominent feature of the neurodevelopmental disorder associated with this gene.; Changed rating: GREEN; Changed phenotypes: Acromelic frontonasal dysostosis (MIM#603671); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Fetal anomalies v0.2073 | PDE4D | Zornitza Stark Phenotypes for gene: PDE4D were changed from ACRODYSOSTOSIS to Acrodysostosis 2, with or without hormone resistance, MIM# 614613 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2071 | PDE4D | Zornitza Stark reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.2062 | LFNG | Zornitza Stark Phenotypes for gene: LFNG were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1938 | SF3B4 | Seb Lunke Phenotypes for gene: SF3B4 were changed from Acrofacial dysostosis 1, Nager type, MIM# 154400 to Acrofacial dysostosis 1, Nager type, MIM# 154400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1934 | SF3B4 | Seb Lunke Phenotypes for gene: SF3B4 were changed from ACROFACIAL DYSOSTOSIS 1, NAGER TYPE to Acrofacial dysostosis 1, Nager type, MIM# 154400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1331 | EVC2 | Zornitza Stark Phenotypes for gene: EVC2 were changed from ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME to Ellis-van Creveld syndrome (MIM#225500) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1329 | EVC | Zornitza Stark Phenotypes for gene: EVC were changed from ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME to Ellis-van Creveld syndrome, MIM# 225500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1235 | EFTUD2 | Zornitza Stark Phenotypes for gene: EFTUD2 were changed from MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.923 | CSF1R |
Zornitza Stark gene: CSF1R was added gene: CSF1R was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF1R were set to 30982609; 33749994; 34135456 Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis, MIM# 618476; BANDDOS Review for gene: CSF1R was set to GREEN Added comment: Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum. Four unrelated families reported. Note mono-allelic variants cause an adult-onset disorder. Sources: Literature |
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| Fetal anomalies v0.872 | DLL3 | Zornitza Stark Phenotypes for gene: DLL3 were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 to Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.870 | DLL3 |
Zornitza Stark changed review comment from: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. ; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. More than 10 unrelated families reported, well established gene-disease association. |
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| Fetal anomalies v0.870 | DLL3 |
Zornitza Stark changed review comment from: Single case report where CDH was observed in addition to the skeletal abnormalities, predates gene identification.; to: The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. |
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| Fetal anomalies v0.733 | CTSK | Zornitza Stark Phenotypes for gene: CTSK were changed from PYCNODYSOSTOSIS to Pycnodysostosis, MIM# 265800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.732 | CTSK | Zornitza Stark reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pycnodysostosis, MIM# 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.689 | EDNRA | Zornitza Stark Phenotypes for gene: EDNRA were changed from MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA to Mandibulofacial dysostosis with alopecia, MIM# 616367 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.684 | EDNRA | Belinda Chong reviewed gene: EDNRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25772936, 27671791; Phenotypes: Mandibulofacial dysostosis with alopecia, MIM# 616367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.618 | MESP2 | Zornitza Stark Phenotypes for gene: MESP2 were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.582 | MESP2 | Daniel Flanagan reviewed gene: MESP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18485326; Phenotypes: Spondylocostal dysostosis 2, autosomal recessive (MIM#608681); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.333 | BMPER | Zornitza Stark Phenotypes for gene: BMPER were changed from DIAPHANOSPONDYLODYSOSTOSIS to Diaphanospondylodysostosis, MIM#608022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.269 | DHODH | Zornitza Stark Phenotypes for gene: DHODH were changed from POSTAXIAL ACROFACIAL DYSOSTOSIS to Miller syndrome, MIM# 263750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.180 | ARSB |
Zornitza Stark changed review comment from: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association.; to: Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal. Well established gene-disease association. Perinatal presentation is uncommon but reported with oedema and skeletal changes. |
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| Fetal anomalies v0.139 | HES7 | Ain Roesley reviewed gene: HES7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29459493, 23897666, 18775957, 20087400; Phenotypes: Spondylocostal dysostosis 4, autosomal recessive MIM#613686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | ZSWIM6 |
Zornitza Stark gene: ZSWIM6 was added gene: ZSWIM6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZSWIM6 were set to ACROMELIC FRONTONASAL DYSOSTOSIS |
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| Fetal anomalies v0.0 | POLR1A |
Zornitza Stark gene: POLR1A was added gene: POLR1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type, OMIM:616462; Acrofacial dysostosis Cincinnati type, MONDO:0014651 |
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| Fetal anomalies v0.0 | TBX6 |
Zornitza Stark gene: TBX6 was added gene: TBX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TBX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5 122600 |
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| Fetal anomalies v0.0 | SOST |
Zornitza Stark gene: SOST was added gene: SOST was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOST were set to Craniodiaphyseal dysplasia, autosomal dominant, 122860; Sclerosteosis 1, 269500; SOST-Related Sclerosing Bone Dysplasias 122860 |
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| Fetal anomalies v0.0 | SF3B4 |
Zornitza Stark gene: SF3B4 was added gene: SF3B4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SF3B4 were set to ACROFACIAL DYSOSTOSIS 1, NAGER TYPE |
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| Fetal anomalies v0.0 | PRKAR1A |
Zornitza Stark gene: PRKAR1A was added gene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS |
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| Fetal anomalies v0.0 | PDE4D |
Zornitza Stark gene: PDE4D was added gene: PDE4D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PDE4D were set to ACRODYSOSTOSIS |
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| Fetal anomalies v0.0 | MESP2 |
Zornitza Stark gene: MESP2 was added gene: MESP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MESP2 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 |
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| Fetal anomalies v0.0 | LFNG |
Zornitza Stark gene: LFNG was added gene: LFNG was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LFNG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LFNG were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 |
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| Fetal anomalies v0.0 | HES7 |
Zornitza Stark gene: HES7 was added gene: HES7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive 613686 |
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| Fetal anomalies v0.0 | EVC2 |
Zornitza Stark gene: EVC2 was added gene: EVC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC2 were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME |
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| Fetal anomalies v0.0 | EVC |
Zornitza Stark gene: EVC was added gene: EVC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EVC were set to ACROFACIAL DYSOSTOSIS WEYERS TYPE; ELLIS-VAN CREVELD SYNDROME |
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| Fetal anomalies v0.0 | EFTUD2 |
Zornitza Stark gene: EFTUD2 was added gene: EFTUD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EFTUD2 were set to MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY |
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| Fetal anomalies v0.0 | EDNRA |
Zornitza Stark gene: EDNRA was added gene: EDNRA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: EDNRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EDNRA were set to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA |
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| Fetal anomalies v0.0 | DLL3 |
Zornitza Stark gene: DLL3 was added gene: DLL3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLL3 were set to SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 |
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| Fetal anomalies v0.0 | DHODH |
Zornitza Stark gene: DHODH was added gene: DHODH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHODH were set to POSTAXIAL ACROFACIAL DYSOSTOSIS |
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| Fetal anomalies v0.0 | CTSK |
Zornitza Stark gene: CTSK was added gene: CTSK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to PYCNODYSOSTOSIS |
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| Fetal anomalies v0.0 | BMPER |
Zornitza Stark gene: BMPER was added gene: BMPER was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS |
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