JAK3

Janus kinase 3
OMIM: 600173, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green JAK3 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SCID, autosomal recessive, T-negative/B-positive type MIM# 600802 Tags treatable
Green JAK3 in Severe Combined Immunodeficiency (absent T present B cells) Level 2: Immunological disorders Version 1.9 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes SCID, autosomal recessive, T-negative/B-positive type MIM# 600802 Tags treatable
Green JAK3 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Green JAK3 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes SCID, autosomal recessive, T-negative/B-positive type
Green JAK3 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Green JAK3 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes SCID, autosomal recessive, T-negative/B-positive type, MIM#600802 Tags treatable immunological
Green JAK3 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)