Genomics England

solute carrier family 33 member 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 42, autosomal dominant, 612539, Congenital cataracts, hearing loss, and neurodegeneration, 614482, Congenital cataracts hearing loss and neurodegeneration, AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital cataracts, hearing loss, and neurodegeneration, 614482