Cerebellar hypoplasia
Gene: PI4KAEnsemblGeneIds (GRCh38): ENSG00000241973
EnsemblGeneIds (GRCh37): ENSG00000241973
OMIM: 600286, Gene2Phenotype
PI4KA is in 13 panels
2 reviews
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Green. This gene associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is now enough evidence to support a gene-disease association.Created: 25 Oct 2021, 10:31 a.m. | Last Modified: 25 Oct 2021, 10:31 a.m.
Panel Version: 1.60
Comment on publications: PMID:34415322. 10 patients from 10 unrelated families with biallelic varaints in PI4KA. Patients showed a spectrum of severe global neurodevelopmental delay (8/10 moderate to severe ID), hypomyelination, cerebellar hyoplasia (1/10), cerebellar atrophy (5/10), bilateral perisylvian polymicrogyria (1/10), immunological problems (hypogammaglobulinaemia, lymphopaenia, and autoimmune neutorpaenia - 4/10), bowl dysfunction (4/10). Age of onset ranged from newborn to 17 years.
PMID: 34415310. 7 unrelated families. Family 1: Amish. Severe extensive multiple intestinal atresia, IBD and combined immunodeficiency (2/4). Families 3 - 8 all have 1 affected individual, (Turkish, Indian, German and Italian). Global developmental delay (all), ID (severe to mild), cerebellar and/or brainstem anomalies (3/6), spasticity (all), immature gyral pattern (1/6), leukodystrophy (6/6), multiple intestinal atresia (0/6), IBD (3/6), combined immunodeficiency (2/6). Early age of onset.Created: 1 Sep 2021, 1:40 p.m. | Last Modified: 1 Sep 2021, 1:40 p.m.
Panel Version: 1.59
Alice Gardham (Genomics England)
3 affected foetuses in one family only. Not in G2PCreated: 14 Nov 2016, 2:39 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
- OMIM
- 600286
- Clinvar variants
- Variants in PI4KA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Arthrogryposis
- Inherited white matter disorders
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Malformations of cortical development
- Infantile enterocolitis & monogenic inflammatory bowel disease
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Cerebellar hypoplasia
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: pi4ka has been classified as Green List (High Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PI4KA were set to 25855803
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531 to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22/02/2017: Panel revised after internal clinical review and further curation.
Created
Alice Gardham (Genomics England)PI4KA was created by agardham
Added New Source
Alice Gardham (Genomics England)PI4KA was added to Cerebellar hypoplasiapanel. Sources: Literature