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Fetal anomalies v1.240 PIP5K1C Zornitza Stark Publications for gene: PIP5K1C were set to 17701898
Fetal anomalies v1.239 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Green List (high evidence)
Fetal anomalies v1.239 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence).
Fetal anomalies v1.238 PIP5K1C Zornitza Stark reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 38491417; Phenotypes: Lethal congenital contractural syndrome 3, OMIM:611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.663 PIP5K1C Zornitza Stark Marked gene: PIP5K1C as ready
Fetal anomalies v0.663 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.663 PIP5K1C Zornitza Stark Classified gene: PIP5K1C as Amber List (moderate evidence)
Fetal anomalies v0.663 PIP5K1C Zornitza Stark Gene: pip5k1c has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.612 PIP5K1C Krithika Murali gene: PIP5K1C was added
gene: PIP5K1C was added to Fetal anomalies. Sources: Expert list,Literature
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 - #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 list, Literature