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  3. PIP5K1C
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Multiple pterygium syndrome_Fetal akinesia sequence

Gene: PIP5K1C

Green List (high evidence)
PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase type 1 gamma)
EnsemblGeneIds (GRCh38): ENSG00000186111
EnsemblGeneIds (GRCh37): ENSG00000186111
OMIM: 606102, Gene2Phenotype
PIP5K1C is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.
Created: 30 Apr 2024, 12:27 a.m. | Last Modified: 30 Apr 2024, 12:27 a.m.
Panel Version: 1.4
Two families reported in 2007 with same homozygous variant, no reports since. Borderline Red/Amber.
Sources: Expert Review
Created: 14 Jun 2021, 8:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contractural syndrome 3, MIM# 611369

Publications

Created: 14 Jun 2021, 8:16 a.m.

Panel version: 1.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Lethal congenital contractural syndrome 3, MIM# 611369
OMIM
606102
Clinvar variants
Variants in PIP5K1C
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pip5k1c has been classified as Green List (High Evidence).

3 Aug 2023, Gel status: 2

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: PIP5K1C were set to 17701898

14 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pip5k1c has been classified as Amber List (Moderate Evidence).

14 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pip5k1c has been classified as Amber List (Moderate Evidence).

14 Jun 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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