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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 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 |
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