Microcephaly
Gene: AP3B2EnsemblGeneIds (GRCh38): ENSG00000103723
EnsemblGeneIds (GRCh37): ENSG00000103723
OMIM: 602166, Gene2Phenotype
AP3B2 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 9 unrelated families reported. Disorder is characterised by ID, epilepsy, optic atrophy and microcephaly in some.
Sources: Expert ReviewCreated: 5 Dec 2021, 10:10 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 48, MIM# 617276
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Developmental and epileptic encephalopathy 48, MIM# 617276
- OMIM
- 602166
- Clinvar variants
- Variants in AP3B2
- 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: ap3b2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ap3b2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: AP3B2 was added gene: AP3B2 was added to Microcephaly. Sources: Expert Review Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3B2 were set to 27431290; 27866705; 32705489 Phenotypes for gene: AP3B2 were set to Developmental and epileptic encephalopathy 48, MIM# 617276 Review for gene: AP3B2 was set to GREEN