Leukodystrophy - paediatric
Gene: TMEM63AEnsemblGeneIds (GRCh38): ENSG00000196187
EnsemblGeneIds (GRCh37): ENSG00000196187
TMEM63A is in 2 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
4 unrelated patients with infantile-onset leukodystrophy with heterozygous variants.
Sources: Expert listCreated: 19 Jan 2020, 9:58 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating, 19, transient infantile 618688
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four unrelated families reported; in three individuals, the variant was de novo, and inherited from a deceased parent in the fourth.
Sources: Expert listCreated: 5 Jan 2020, 5:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukodystrophy, hypomyelinating, 19, transient infantile, MIM# 618688
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Expert list
- Phenotypes
-
- Leukodystrophy, hypomyelinating, 19, transient infantile 618688
- Clinvar variants
- Variants in TMEM63A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tmem63a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TMEM63A was added gene: TMEM63A was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TMEM63A were set to 31587869 Phenotypes for gene: TMEM63A were set to Leukodystrophy, hypomyelinating, 19, transient infantile 618688 Review for gene: TMEM63A was set to GREEN