Leukodystrophy - paediatric
Gene: CLDN11EnsemblGeneIds (GRCh38): ENSG00000013297
EnsemblGeneIds (GRCh37): ENSG00000013297
OMIM: 601326, Gene2Phenotype
CLDN11 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypomyelinating leukodystrophy-22, MIM#619328
Melanie Marty (Victorian Clinical Genetics Services)
In three unrelated individuals with early-onset spastic movement disorder, expressive speech disorder and eye abnormalities including hypermetropia, 2 different heterozygous de novo stop-loss variants were identified. One of the variants did not lead to a loss of CLDN11 expression on RNA level in fibroblasts indicating this transcript is not subject to nonsense-mediated decay and most likely translated into an extended protein.
Sources: LiteratureCreated: 12 Apr 2021, 6:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypomyelinating leukodystrophy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypomyelinating leukodystrophy-22, MIM#619328
- OMIM
- 601326
- Clinvar variants
- Variants in CLDN11
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLDN11 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy-22, MIM#619328
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: cldn11 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: cldn11 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Melanie Marty (Victorian Clinical Genetics Services)gene: CLDN11 was added gene: CLDN11 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: CLDN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CLDN11 were set to 33313762 Phenotypes for gene: CLDN11 were set to Hypomyelinating leukodystrophy Review for gene: CLDN11 was set to GREEN