VPS13B

vacuolar protein sorting 13 homolog B
OMIM: 607817, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green VPS13B in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.224	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red VPS13B in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.400	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cohen syndrome, MIM#216550
Amber VPS13B in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.94	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Cohen syndrome (MIM# 216550)
Amber VPS13B in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.31	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Cohen syndrome (MIM# 216550)
Green VPS13B in Mendeliome Version 1.3512	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Cohen syndrome, MIM# 216550
Green VPS13B in Phagocyte Defects Level 2: Immunological disorders Version 1.44 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Cohen syndrome, MIM# 216550
Green VPS13B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.410	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Cohen syndrome MONDO:0008999
Green VPS13B in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.234 Component of the following Super Panels: Retinal Disorders Superpanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Cohen syndrome MIM#216550
Green VPS13B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cohen syndrome, 216550 (3)
Green VPS13B in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cohen syndrome
Amber VPS13B in Fetal anomalies Version 1.465	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert Review Phenotypes Cohen syndrome (MIM# 216550)
Green VPS13B in Severe early-onset obesity Level 2: Endocrine disorders Version 1.19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Cohen syndrome MIM#216550
Green VPS13B in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cohen syndrome, MIM# 216550
Red VPS13B in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Cohen syndrome MIM#216550
Green VPS13B in Prepair 500+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cohen syndrome, MIM# 216550