AP3B2

adaptor related protein complex 3 subunit beta 2
OMIM: 602166, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green AP3B2 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 48, MIM# 617276
Green AP3B2 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Developmental and epileptic encephalopathy 48, MIM# 617276
Green AP3B2 in Optic Atrophy Level 2: Ophthalmological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Green AP3B2 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Green AP3B2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Green AP3B2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive
Amber AP3B2 in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 48, MIM# 617276
Green AP3B2 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Developmental and epileptic encephalopathy 48 MIM#617276