Cerebellar hypoplasia
Gene: PI4KAComment 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
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
Gene: pi4ka has been classified as Green List (High Evidence).
Publications for gene: PI4KA were set to 25855803
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
22/02/2017: Panel revised after internal clinical review and further curation.
PI4KA was created by agardham
PI4KA was added to Cerebellar hypoplasiapanel. Sources: Literature