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Fetal anomalies

Gene: AP3B2

Amber List (moderate evidence)

AP3B2 (adaptor related protein complex 3 beta 2 subunit)
EnsemblGeneIds (GRCh38): ENSG00000103723
EnsemblGeneIds (GRCh37): ENSG00000103723
OMIM: 602166, Gene2Phenotype
AP3B2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

At least 8 unrelated families reported. Onset of symptoms is post-natal. Microcephaly reported in some, though onset is unclear.
Created: 9 Apr 2020, 7:08 a.m. | Last Modified: 5 Dec 2021, 10:04 p.m.
Panel Version: 0.944

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early-onset epileptic encephalopathy with optic atrophy, MIM#617276

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Genetic Health Queensland
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

5 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ap3b2 has been classified as Amber List (Moderate Evidence).

5 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AP3B2 were changed from Epileptic Encephalopathy with Optic Atrophy to Developmental and epileptic encephalopathy 48, MIM# 617276

5 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AP3B2 were set to

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AP3B2 was added gene: AP3B2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy