BORCS5

BLOC-1 related complex subunit 5
OMIM: 616598, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green BORCS5 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.424 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related
Green BORCS5 in Mendeliome Version 1.3050	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related
Green BORCS5 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.334	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related
Green BORCS5 in Optic Atrophy Level 2: Ophthalmological disorders Version 1.49 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related
Red BORCS5 in Osteopetrosis Level 2: Skeletal disorders Version 0.38	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329)
Green BORCS5 in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.22 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related
Green BORCS5 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.196 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related
Green BORCS5 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.585	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related
Green BORCS5 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.288	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related
Green BORCS5 in Fetal anomalies Version 1.405	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Lysosomal storage disease, MONDO:0002561, BORCS5-related