SLC29A3

solute carrier family 29 member 3
OMIM: 612373
PanelMode of inheritanceDetails
4 panels
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
R-numbers: R236
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome/H disease, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome 602782, Other autoinflammatory diseases with known genetic defect, Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome, Autoinflammatory Disorders
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Histiocytosis-lymphadenopathy plus syndrome 602782