SLC29A3

solute carrier family 29 member 3
OMIM: 612373, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SLC29A3 in COVID-19 research Level 2: Viral research Version 1.142	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome Autoinflammatory Disorders
Green SLC29A3 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
Green SLC29A3 in Pigmentary skin disorders Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green SLC29A3 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
Green SLC29A3 in Hypogonadotropic hypogonadism Level 3: Hypothalamic and pituitary disorders Level 2: Endocrine disorders Version 1.41	review	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Amber SLC29A3 in Hypogonadotropic hypogonadism (GMS) Version 3.18 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS South West GLH Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 H syndrome: characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies and hypogonadism
Green SLC29A3 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Hyperpigmentation hypertrichosis, histiocytosis-lymphadenopathy plus syndrome Autoinflammatory Disorders
Green SLC29A3 in Monogenic diabetes Version 2.58 Latest signed off version: v2.2 (25 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green SLC29A3 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green SLC29A3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.65 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green SLC29A3 in Fetal anomalies Version 3.166 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 H syndrome, MONDO:0011273
Red SLC29A3 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism
Green SLC29A3 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782
Green SLC29A3 in Autoinflammatory disorders Level 3: Primary immunodeficiency disorders Level 2: Haematological disorders Version 1.17 Latest signed off version: v1.0 (30 Nov 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782