Cerebellar and Pontocerebellar Hypoplasia
Gene: VRK1EnsemblGeneIds (GRCh38): ENSG00000100749
EnsemblGeneIds (GRCh37): ENSG00000100749
OMIM: 602168, Gene2Phenotype
VRK1 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PCH type 1 is characterised by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy.
Three families reported with PCH. Also note two additional families reported with SMA without PCH.Created: 14 Feb 2021, 7:25 a.m. | Last Modified: 14 Feb 2021, 7:25 a.m.
Panel Version: 0.204
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1A, MIM# 607596
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Pontocerebellar hypoplasia type 1A, MIM# 607596
- OMIM
- 602168
- Clinvar variants
- Variants in VRK1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Motor Neurone Disease
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Prepair 1000+
- Microcephaly
- Arthrogryposis
- Mendeliome
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Callosome
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: vrk1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: VRK1 were changed from to Pontocerebellar hypoplasia type 1A, MIM# 607596
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: VRK1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: VRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: VRK1 was added gene: VRK1 was added to Cerebellar and Pontocerebellar hypoplasia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VRK1 was set to Unknown