Fetal anomalies
Gene: PIP5K1C

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.

Panel Version: 5.78

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.

Panel Version: 5.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Green List (high evidence)

Homozygous missense variant reported in affected members of a large 5-generation Israeli Bedouin kindred and in an affected individual from an unrelated family (17701898). Affected individuals were born with severe multiple joint contractures with severe muscle wasting and atrophy, mainly in the legs. Compound heterozygous frameshift variants detected prenatally in two siblings with similar phenotype (38491417). Separately, de novo heterozygous missense variants with evidence of gain-of-function effect reported in patients with intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features (PMID: 37451268). Three families with biallelic variants and consistent phenotype, sufficient for green rating. Only biallelic mechanism of clear relevance prenatally.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.

Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lethal congenital contractural syndrome 3, MIM#611369

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Lethal congenital contractural syndrome 3, OMIM:611369

OMIM

606102

Clinvar variants

Variants in PIP5K1C

Penetrance

None

Publications

Panels with this gene