AP1S1:Ensemblv90

adaptor related protein complex 1 sigma 1 subunit
OMIM: 603531, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green AP1S1 in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 1.30	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MEDNIK syndrome, MONDO:0012251
Green AP1S1 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 1.23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MEDNIK syndrome (MIM#609313)
Green AP1S1 in Mendeliome Version 1.3802	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MEDNIK syndrome 609313 non-syndromic congenital intestinal failure
Green AP1S1 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.137	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MEDNIK syndrome (MIM#609313)
Green AP1S1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MEDNIK syndrome, MONDO:0012251
Green AP1S1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes MEDNIK syndrome, MIM# 609313
Green AP1S1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 1.45 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes MEDNIK Syndrome (MONDO:0012251, MIM#609313) Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Green AP1S1 in Metal Metabolism Disorders Level 2: Metabolic disorders Version 0.52 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEDNIK syndrome MONDO:0012251 Disorders of copper metabolism
Green AP1S1 in Congenital Diarrhoea Level 2: Gastroenterological disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes MEDNIK syndrome, MONDO:0012251
Green AP1S1 in Ichthyosis and Porokeratosis Level 2: Dermatological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes MEDNIK syndrome (MIM#609313)
Green AP1S1 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes MEDNIK syndrome (MIM#609313)
Green AP1S1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MEDNIK syndrome, MONDO:0012251
Green AP1S1 in Hereditary Neuropathy - complex Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes MEDNIK Syndrome (MONDO:0012251, MIM#609313) Congenital-onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Green AP1S1 in Metal Metabolism Disorders Level 2: Metabolic disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MEDNIK syndrome MONDO:0012251 Disorders of copper metabolism