Genomics England

adaptor related protein complex 1 sigma 1 subunit

Panel	Mode of inheritance	Details
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Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MEDNIK syndrome, OMIM:609313, Congenital onset, Mental retardation, Enteropathy (severe congenital diarrhoea), Deafness, sensory-motor Neuropathy with intermediate conduction velocities, Ichthyosis, Keratoderma
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MEDNIK syndrome, 609313, MEDNIK syndrome, mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratoderma syndrome
Green in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Non-syndromic congenital intestinal failure, MEDNIK syndrome, OMIM:609313
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Non-syndromic congenital intestinal failure, MEDNIK syndrome, OMIM:609313
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.27	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MEDNIK syndrome