Genomics England

SLC29A3

solute carrier family 29 member 3

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green in Autoinflammatory disorders R-numbers: R413 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782, H syndrome, MONDO:0011273
Green in Monogenic diabetes R-numbers: R141 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome, H syndrome (hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and hyperglycaemia) and PHID syndrome (pigmented hypertrichosis with insulin dependent diabetes), Histiocytosis-lymphadenopathy plus syndrome,602782
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782, Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome, Autoinflammatory Disorders
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782