VPS13B:Ensemblv115

vacuolar protein sorting 13 homolog B
OMIM: 607817, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green VPS13B in Autism Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Red VPS13B in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Red Phenotypes Cohen syndrome, MIM#216550
Amber VPS13B in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Cohen syndrome (MIM# 216550)
Amber VPS13B in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Cohen syndrome (MIM# 216550)
Green VPS13B in Phagocyte Defects Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Green Phenotypes Cohen syndrome, MIM# 216550
Green VPS13B in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Expert list Expert Review Green Expert Review Green Phenotypes Cohen syndrome MIM#216550
Green VPS13B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Cohen syndrome, 216550 (3)
Green VPS13B in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Cohen syndrome
Green VPS13B in Severe early-onset obesity Level 2: Endocrine disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Cohen syndrome MIM#216550
Green VPS13B in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Cohen syndrome, MIM# 216550
Green VPS13B in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Cohen syndrome, MIM# 216550