SLC29A3

solute carrier family 29 member 3
OMIM: 612373, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green SLC29A3 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Histiocytosis-lymphadenopathy plus syndrome - MIM#602782
Green SLC29A3 in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SLC29A3 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Green SLC29A3 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Green SLC29A3 in Systemic Autoinflammatory Disease_Periodic Fever Level 2: Immunological disorders Version 1.47 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782
Red SLC29A3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Histiocytosis-lymphadenopathy plus syndrome OMIM #602782
Green SLC29A3 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Histiocytosis-lymphadenopathy plus syndrome 602782
Green SLC29A3 in Monogenic Diabetes Level 2: Endocrine disorders Version 0.134 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Histiocytosis-lymphadenopathy plus syndrome, MIM#602782
Amber SLC29A3 in Stickler Syndrome Level 2: Ophthalmological disoders Version 1.8 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Phenotypes Histiocytosis-lymphadenopathy plus syndrome - MIM#602782
Green SLC29A3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
Green SLC29A3 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Expert list Phenotypes H syndrome, MONDO:0011273 Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Green SLC29A3 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
Green SLC29A3 in Nucleotide metabolism disorders Level 2: Metabolic disorders Version 0.1 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Disorders of ectonucleotide and nucleic acid metabolism H syndrome MONDO:0011273