AP1S1

adaptor related protein complex 1 sigma 1 subunit
OMIM: 603531, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green AP1S1 in Vici Syndrome and other autophagy disorders Level 3: Autophagy disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.2	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes MEDNIK syndrome mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome Tags founder-effect
Red AP1S1 in Cholestasis Version 3.4 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Non-syndromic congenital intestinal failure MEDNIK syndrome, OMIM:609313
Green AP1S1 in Intestinal failure or congenital diarrhoea Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Non-syndromic congenital intestinal failure MEDNIK syndrome, OMIM:609313
Green AP1S1 in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes MEDNIK syndrome
Amber AP1S1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS London North GLH Phenotypes MEDNIK syndrome, 609313 Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Green AP1S1 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.41 Latest signed off version: v4.39 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Non-syndromic congenital intestinal failure MEDNIK syndrome, OMIM:609313
Green AP1S1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Literature Phenotypes MEDNIK syndrome, 609313 MEDNIK syndrome mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
Amber AP1S1 in Hereditary neuropathy or pain disorder Version 4.8 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS NHS GMS London North GLH Phenotypes MEDNIK syndrome, 609313 Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Green AP1S1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes MEDNIK syndrome, 609313