Leukodystrophy - paediatric
Gene: PYCR2EnsemblGeneIds (GRCh38): ENSG00000143811
EnsemblGeneIds (GRCh37): ENSG00000143811
OMIM: 616406, Gene2Phenotype
PYCR2 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hypomyelinating leukodystrophy-10 is an autosomal recessive neurologic disorder characterized by postnatal progressive microcephaly, severely delayed psychomotor development, and hypomyelination on brain imaging. More than 10 unrelated families reported.Created: 14 Apr 2022, 6:45 a.m. | Last Modified: 14 Apr 2022, 6:45 a.m.
Panel Version: 0.257
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 10, MIM# 616420
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 10, MIM# 616420
- OMIM
- 616406
- Clinvar variants
- Variants in PYCR2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pycr2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PYCR2 were changed from Leukodystrophy, hypomyelinating, 10 616420 to Leukodystrophy, hypomyelinating, 10, MIM# 616420
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PYCR2 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PYCR2 was added gene: PYCR2 was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10 616420