Cataracts

Gene: AP4B1

Red List (low evidence)

AP4B1 (adaptor related protein complex 4 beta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000134262
EnsemblGeneIds (GRCh37): ENSG00000134262
OMIM: 607245, Gene2Phenotype
AP4B1 is in 8 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

AP4B1 is associated with an unrelated phenotype on OMIM and Gene2Phenotype. There is only 1 case (PMID: 29430868) so currently there is not enough evidence to promote this gene to green status.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: AP4B1; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]
Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • AP-4 deficiency syndrome and ocular anomalies
OMIM
607245
Clinvar variants
Variants in AP4B1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: AP4B1 was added gene: AP4B1 was added to Cataracts. Sources: Expert list,Expert Review Red Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 29430868 Phenotypes for gene: AP4B1 were set to AP-4 deficiency syndrome and ocular anomalies