Microcephaly
Gene: PIP5K1CEnsemblGeneIds (GRCh38): ENSG00000186111
EnsemblGeneIds (GRCh37): ENSG00000186111
OMIM: 606102, Gene2Phenotype
PIP5K1C is in 9 panels
1 review
Chirag Patel (Genetic Health Queensland)
ESHG 2023:
9 unrelated patients with de novo missense variants in PIP5K1C (3 x recurrent variants).
Presentation with DD/ID (mod-profound), microcephaly, seizures, visual impairment, and dysmorphism.
PIP5K1C is one of the phosphoinositolides, which control membrane composition of organelles and varying cellular processes. Patient fibroblasts showed increased PI(4,5)P2 levels, altered PI(4,5)P2 composition of early endosomes, and impaired endocytosis trafficking. Drosophila models showed microcephaly and ocular phenotype.
Sources: OtherCreated: 25 Jul 2023, 3:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder and microcephaly
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
- OMIM
- 606102
- Clinvar variants
- Variants in PIP5K1C
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Elena Savva (Victorian Clinical Genetics Services)Publications for gene: PIP5K1C were set to 37451268
Set publications
Elena Savva (Victorian Clinical Genetics Services)Publications for gene: PIP5K1C were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pip5k1c has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: pip5k1c has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PIP5K1C was added gene: PIP5K1C was added to Microcephaly. Sources: Other Mode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly Review for gene: PIP5K1C was set to GREEN gene: PIP5K1C was marked as current diagnostic