Congenital ophthalmoplegia
Gene: HNRNPA2B1EnsemblGeneIds (GRCh38): ENSG00000122566
EnsemblGeneIds (GRCh37): ENSG00000122566
OMIM: 600124, Gene2Phenotype
HNRNPA2B1 is in 5 panels
1 review
Naomi Baker (Victorian Clinical Genetics Services)
PMID:35484142 reports 11 individuals from 10 families with heterozygous frameshift variants that result in the identical protein extension. Phenotype presents as an early-onset oculopharyngeal muscular dystrophy-like phenotype, and includes ptosis, ophthalmoplegia, symmetric proximal and distal weakness, moderate progression, dysphagia, respiratory insufficiency.
Sources: LiteratureCreated: 5 May 2022, 1:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
oculopharyngeal muscular dystrophy, MONDO:0008116
Publications
- PMID:35484142
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
- OMIM
- 600124
- Clinvar variants
- Variants in HNRNPA2B1
- Penetrance
- None
- Publications
-
- PMID:35484142
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: HNRNPA2B1 were changed from oculopharyngeal muscular dystrophy, MONDO:0008116 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hnrnpa2b1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hnrnpa2b1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Naomi Baker (Victorian Clinical Genetics Services)gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Congenital ophthalmoplegia. Sources: Literature Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA2B1 were set to PMID:35484142 Phenotypes for gene: HNRNPA2B1 were set to oculopharyngeal muscular dystrophy, MONDO:0008116 Review for gene: HNRNPA2B1 was set to GREEN