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Multiple pterygium syndrome_Fetal akinesia sequence v1.5 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v1.5 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.4 PIP5K1C Zornitza Stark edited their review of gene: PIP5K1C: Added comment: PMID 38491417: reported a novel variant (p.S318Ifs*28) and a different variant which has been reported in ClinVar (p.G230Qfs*114) has been identified in two foetuses with contractures and other joint abnormalities. The variants were confirmed to be in trans through parental testing.; Changed rating: GREEN; Changed publications: 17701898, 38491417
Multiple pterygium syndrome_Fetal akinesia sequence v1.4 PIP5K1C Elena Savva Publications for gene: PIP5K1C were set to 17701898
Multiple pterygium syndrome_Fetal akinesia sequence v1.3 KIF21A Chirag Patel Classified gene: KIF21A as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v1.3 KIF21A Chirag Patel Gene: kif21a has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.2 KIF21A Chirag Patel gene: KIF21A was added
gene: KIF21A was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF21A were set to PMID: 34740919
Phenotypes for gene: KIF21A were set to Severe fetal akinesia with arthrogryposis multiplex
Review for gene: KIF21A was set to AMBER
Added comment: 2 unrelated consanguineous Turkish families with 5 affected fetuses with severe fetal akinesia with arthrogryposis multiplex. WES identified different homozygous LOF variants in KIF21A gene (p.Leu449* and p.Arg791Glufs*8). Parents and a healthy sibling were heterozygous carriers. No functional studies.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v1.1 Zornitza Stark HPO terms changed from to Pterygium, HP:0001059; Akinesia, HP:0002304; Fetal akinesia sequence, HP:0001989
List of related panels changed from to Pterygium; HP:0001059; Akinesia; HP:0002304; Fetal akinesia sequence; HP:0001989
Multiple pterygium syndrome_Fetal akinesia sequence v1.0 CHRND Zornitza Stark Tag treatable tag was added to gene: CHRND.
Multiple pterygium syndrome_Fetal akinesia sequence v1.0 CHRNA1 Zornitza Stark Tag treatable tag was added to gene: CHRNA1.
Multiple pterygium syndrome_Fetal akinesia sequence v1.0 Zornitza Stark promoted panel to version 1.0
Multiple pterygium syndrome_Fetal akinesia sequence v0.70 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.70 DNM2 Zornitza Stark Gene: dnm2 has been classified as Red List (Low Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.70 DNM2 Zornitza Stark edited their review of gene: DNM2: Changed rating: RED; Changed phenotypes: Lethal congenital contracture syndrome 5, MIM# 615368
Multiple pterygium syndrome_Fetal akinesia sequence v0.70 DNM2 Zornitza Stark gene: DNM2 was added
gene: DNM2 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: DNM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNM2 were set to 23092955
Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, MIM# 615368
Review for gene: DNM2 was set to AMBER
Added comment: Single family reported with lethal congenital contractures, 3 sibs, postulated hypomorphic missense. Monoallelic variants in this gene is associated with neuropathy/myopathy/mitochondrial disease.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.69 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.69 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.69 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.69 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.68 PIP5K1C Zornitza Stark gene: PIP5K1C was added
gene: PIP5K1C was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIP5K1C were set to 17701898
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, MIM# 611369
Review for gene: PIP5K1C was set to AMBER
Added comment: Two families reported in 2007 with same homozygous variant, no reports since. Borderline Red/Amber.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.67 CNTNAP1 Zornitza Stark Marked gene: CNTNAP1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.67 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.67 CNTNAP1 Zornitza Stark Classified gene: CNTNAP1 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.67 CNTNAP1 Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.66 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNTNAP1 were set to 24319099; 28254648
Phenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, MIM# 616286; MONDO:0014569
Review for gene: CNTNAP1 was set to GREEN
Added comment: At least 5 unrelated families reported.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.65 GLDN Zornitza Stark Marked gene: GLDN as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.65 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.65 GLDN Zornitza Stark Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11, MIM# 617194 to Lethal congenital contracture syndrome 11, MIM# 617194; MONDO:0014965
Multiple pterygium syndrome_Fetal akinesia sequence v0.64 GLDN Zornitza Stark Classified gene: GLDN as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.64 GLDN Zornitza Stark Gene: gldn has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.63 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDN were set to 27616481; 32812332; 28726266
Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, MIM# 617194
Review for gene: GLDN was set to GREEN
Added comment: Ten unrelated families reported.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.62 ZBTB42 Zornitza Stark Marked gene: ZBTB42 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.62 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.62 ZBTB42 Zornitza Stark Classified gene: ZBTB42 as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.62 ZBTB42 Zornitza Stark Gene: zbtb42 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.61 ZBTB42 Zornitza Stark gene: ZBTB42 was added
gene: ZBTB42 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB42 were set to 25055871
Phenotypes for gene: ZBTB42 were set to Lethal congenital contracture syndrome 6, MIM# 616248
Review for gene: ZBTB42 was set to AMBER
Added comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Tag founder tag was added to gene: NEK9.
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Marked gene: NEK9 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Gene: nek9 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Classified gene: NEK9 as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.60 NEK9 Zornitza Stark Gene: nek9 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.59 NEK9 Zornitza Stark gene: NEK9 was added
gene: NEK9 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
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
Review for gene: NEK9 was set to AMBER
Added comment: PMID 26908619: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.

Another family reported with milder arthrogryposis.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.58 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.58 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.58 MYBPC1 Zornitza Stark Classified gene: MYBPC1 as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.58 MYBPC1 Zornitza Stark Gene: mybpc1 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.57 MYBPC1 Zornitza Stark gene: MYBPC1 was added
gene: MYBPC1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: MYBPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC1 were set to 22610851; 23873045
Phenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4, MIM# 614915
Review for gene: MYBPC1 was set to AMBER
Added comment: Two families reported with lethal congenital contractures, same small ethnic group and same variant, founder. However, gene is associated with a range of neuromuscular phenotypes, including milder forms of arthrogryposis, and zebrafish model is supportive.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.56 ERBB3 Zornitza Stark Marked gene: ERBB3 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.56 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.56 ERBB3 Zornitza Stark Classified gene: ERBB3 as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.56 ERBB3 Zornitza Stark Gene: erbb3 has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.55 ERBB3 Zornitza Stark gene: ERBB3 was added
gene: ERBB3 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 17701904; 31752936
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, MIM# 607598
Review for gene: ERBB3 was set to AMBER
Added comment: Two families reported with contractures, positional approach used in gene discovery (2007). Another family reported more recently with a multi-system disorder but without contractures.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.54 ADCY6 Zornitza Stark Marked gene: ADCY6 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.54 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.54 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570 to Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570
Multiple pterygium syndrome_Fetal akinesia sequence v0.53 ADCY6 Zornitza Stark Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM# 616287 to Lethal congenital contracture syndrome 8, MIM# 616287; MONDO:0014570
Multiple pterygium syndrome_Fetal akinesia sequence v0.52 ADCY6 Zornitza Stark Classified gene: ADCY6 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.52 ADCY6 Zornitza Stark Gene: adcy6 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.51 ADCY6 Zornitza Stark gene: ADCY6 was added
gene: ADCY6 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 24319099; 26257172; 31846058
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, MIM# 616287
Review for gene: ADCY6 was set to GREEN
Added comment: Three unrelated families and supportive data from a zebrafish model.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.49 ADGRG6 Zornitza Stark Marked gene: ADGRG6 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.49 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.49 ADGRG6 Zornitza Stark Classified gene: ADGRG6 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.49 ADGRG6 Zornitza Stark Gene: adgrg6 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.48 ADGRG6 Zornitza Stark gene: ADGRG6 was added
gene: ADGRG6 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to 26004201; 33820833
Phenotypes for gene: ADGRG6 were set to Lethal congenital contracture syndrome 9, MIM# 616503; MONDO:0014670
Review for gene: ADGRG6 was set to GREEN
Added comment: At least 3 unrelated families reported with severe perinatal phenotype. Gene previously known as GPR126.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.46 NUP88 Zornitza Stark Marked gene: NUP88 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.46 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.46 NUP88 Zornitza Stark Classified gene: NUP88 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.46 NUP88 Zornitza Stark Gene: nup88 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.45 NUP88 Zornitza Stark gene: NUP88 was added
gene: NUP88 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP88 were set to 30543681
Phenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM# 618393
Review for gene: NUP88 was set to GREEN
Added comment: Two families and a zebrafish model.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.44 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.44 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.44 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to Fetal akinesia sequence
Multiple pterygium syndrome_Fetal akinesia sequence v0.43 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.42 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32655342, 32097819, 30236493; Phenotypes: Fetal akinesia sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 AGRN Zornitza Stark Marked gene: AGRN as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 AGRN Zornitza Stark Classified gene: AGRN as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.41 AGRN Zornitza Stark Gene: agrn has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.40 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGRN were set to 31730230
Phenotypes for gene: AGRN were set to Fetal akinesia sequence
Review for gene: AGRN was set to AMBER
Added comment: Single report of homozygous intragenic deletion causing fetal akinesia sequence. Association with congenital myasthenia is well established.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.39 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.39 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.39 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2, MIM# 618388
Multiple pterygium syndrome_Fetal akinesia sequence v0.38 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.37 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 RAPSN Zornitza Stark reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179903, 18252226, 28495245; Phenotypes: Fetal akinesia deformation sequence 2, MIM# 618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 MUSK Zornitza Stark Marked gene: MUSK as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 MUSK Zornitza Stark Gene: musk has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.36 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101
Multiple pterygium syndrome_Fetal akinesia sequence v0.35 MUSK Zornitza Stark Publications for gene: MUSK were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.34 MUSK Zornitza Stark Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 MUSK Zornitza Stark edited their review of gene: MUSK: Changed phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150, MONDO:0100101
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 MUSK Zornitza Stark reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.33 Zornitza Stark Panel name changed from Multiple pterygium syndrome to Multiple pterygium syndrome_Fetal akinesia sequence
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Multiple pterygium syndrome_Fetal akinesia sequence v0.32 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.32 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.32 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from to Lethal congenital contracture syndrome 1, MIM# 253310
Multiple pterygium syndrome_Fetal akinesia sequence v0.31 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.30 GLE1 Zornitza Stark Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.29 GLE1 Zornitza Stark reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.29 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from to Fetal akinesia deformation sequence 3, MIM# 618389
Multiple pterygium syndrome_Fetal akinesia sequence v0.28 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.27 DOK7 Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19261599, 31880392; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 TPM2 Zornitza Stark Marked gene: TPM2 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 TPM2 Zornitza Stark Gene: tpm2 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 TPM2 Zornitza Stark Classified gene: TPM2 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.26 TPM2 Zornitza Stark Gene: tpm2 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.25 TPM2 Zornitza Stark gene: TPM2 was added
gene: TPM2 was added to Multiple pterygium syndrome. Sources: Literature
Mode of inheritance for gene: TPM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TPM2 were set to 33558124; 32092148
Phenotypes for gene: TPM2 were set to Multiple pterygium syndrome
Review for gene: TPM2 was set to GREEN
Added comment: Mono-allelic variants: three unrelated individuals reported with more severe multiple pterygium phenotype and recurrent missense, demonstrated de novo in two PMID 32092148.

PMID 33558124: fetus with multiple pterygium syndrome and homozygous canonical splice site variant. This is the second report of bi-allelic disease, the previously reported individual presented with congenital myopathy.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.24 COLQ Zornitza Stark Marked gene: COLQ as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.24 COLQ Zornitza Stark Gene: colq has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.24 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from to Myasthenic syndrome, congenital, 5, MIM# 603034
Multiple pterygium syndrome_Fetal akinesia sequence v0.23 COLQ Zornitza Stark Publications for gene: COLQ were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.22 COLQ Zornitza Stark Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.21 COLQ Zornitza Stark Classified gene: COLQ as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.21 COLQ Zornitza Stark Gene: colq has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.20 COLQ Zornitza Stark reviewed gene: COLQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.20 CHRNG Zornitza Stark Marked gene: CHRNG as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.20 CHRNG Zornitza Stark Gene: chrng has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.20 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668
Multiple pterygium syndrome_Fetal akinesia sequence v0.19 CHRNG Zornitza Stark Publications for gene: CHRNG were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.18 CHRNG Zornitza Stark Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.17 CHRNG Zornitza Stark reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009926, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.17 CHRNE Zornitza Stark Marked gene: CHRNE as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.17 CHRNE Zornitza Stark Gene: chrne has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.17 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from to Congenital myasthenia, multiple types
Multiple pterygium syndrome_Fetal akinesia sequence v0.16 CHRNE Zornitza Stark Mode of inheritance for gene: CHRNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.15 CHRNE Zornitza Stark Classified gene: CHRNE as Amber List (moderate evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.15 CHRNE Zornitza Stark Gene: chrne has been classified as Amber List (Moderate Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.14 CHRNE Zornitza Stark reviewed gene: CHRNE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myasthenia, multiple types; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.14 CHRND Zornitza Stark Marked gene: CHRND as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.14 CHRND Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.14 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from Multiple pterygium syndrome, lethal type, MIM# 253290 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Multiple pterygium syndrome_Fetal akinesia sequence v0.13 CHRND Zornitza Stark Phenotypes for gene: CHRND were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290
Multiple pterygium syndrome_Fetal akinesia sequence v0.12 CHRND Zornitza Stark Publications for gene: CHRND were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.11 CHRND Zornitza Stark Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.10 CHRND Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 29399782, 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.10 CHRNA1 Zornitza Stark Marked gene: CHRNA1 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.10 CHRNA1 Zornitza Stark Gene: chrna1 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.10 CHRNA1 Zornitza Stark Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668
Multiple pterygium syndrome_Fetal akinesia sequence v0.9 CHRNA1 Zornitza Stark Publications for gene: CHRNA1 were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.8 CHRNA1 Zornitza Stark Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 CHRNA1 Zornitza Stark edited their review of gene: CHRNA1: Changed phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 CHRNA1 Zornitza Stark reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 MYBPC2 Zornitza Stark Marked gene: MYBPC2 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 MYBPC2 Zornitza Stark Gene: mybpc2 has been classified as Red List (Low Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.7 MYBPC2 Zornitza Stark gene: MYBPC2 was added
gene: MYBPC2 was added to Multiple pterygium syndrome. Sources: Literature
Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBPC2 were set to 32732226
Phenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium
Review for gene: MYBPC2 was set to RED
Added comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs.
Sources: Literature
Multiple pterygium syndrome_Fetal akinesia sequence v0.6 KLHL40 Zornitza Stark Marked gene: KLHL40 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.6 KLHL40 Zornitza Stark Gene: klhl40 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.6 KLHL40 Zornitza Stark Tag founder tag was added to gene: KLHL40.
Multiple pterygium syndrome_Fetal akinesia sequence v0.6 KLHL40 Zornitza Stark Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348
Multiple pterygium syndrome_Fetal akinesia sequence v0.5 KLHL40 Zornitza Stark Publications for gene: KLHL40 were set to
Multiple pterygium syndrome_Fetal akinesia sequence v0.4 KLHL40 Zornitza Stark Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 KLHL40 Zornitza Stark reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 RIPK4 Zornitza Stark Marked gene: RIPK4 as ready
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 RIPK4 Zornitza Stark Classified gene: RIPK4 as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v0.3 RIPK4 Zornitza Stark Gene: ripk4 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v0.2 RIPK4 Zornitza Stark gene: RIPK4 was added
gene: RIPK4 was added to Multiple pterygium syndrome. Sources: Expert Review
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPK4 were set to 28940926; 22197489; 22197488
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650
Review for gene: RIPK4 was set to GREEN
Added comment: At least three unrelated families reported.
Sources: Expert Review
Multiple pterygium syndrome_Fetal akinesia sequence v0.1 Zornitza Stark Panel name changed from Multiple pterygium syndromeVCGS to Multiple pterygium syndrome
Panel types changed to Victorian Clinical Genetics Services
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RYR1 was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAPSN was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MUSK was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KLHL40 was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GLE1 was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOK7 was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: COLQ was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNG was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNE was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRND was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Multiple pterygium syndromeVCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHRNA1 was set to Unknown
Multiple pterygium syndrome_Fetal akinesia sequence v0.0 Zornitza Stark Added panel Multiple pterygium syndromeVCGS