Aminoacidopathy
Gene: PYCR2EnsemblGeneIds (GRCh38): ENSG00000143811
EnsemblGeneIds (GRCh37): ENSG00000143811
OMIM: 616406, Gene2Phenotype
PYCR2 is in 7 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Has been reported in 10 consanguineous families with different variants (frameshift, missense, splice). The affected individuals all had neurological clinical presentation along with other phenotypes including failure to thrive.
Sources: OtherCreated: 18 Jul 2024, 11:42 p.m. | Last Modified: 19 Jul 2024, 12:11 a.m.
Panel Version: 1.113
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelinating leukodystrophy 10 MONDO:0014632; Disorders of ornithine, proline and hydroxyproline metabolism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypomyelinating leukodystrophy 10 MONDO:0014632
- Disorders of ornithine, proline and hydroxyproline metabolism
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pycr2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: PYCR2 was added gene: PYCR2 was added to Aminoacidopathy. Sources: Other Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYCR2 were set to 25865492; 27130255 Phenotypes for gene: PYCR2 were set to Hypomyelinating leukodystrophy 10 MONDO:0014632; Disorders of ornithine, proline and hydroxyproline metabolism Review for gene: PYCR2 was set to RED