SH2D1A

SH2 domain containing 1A
OMIM: 300490, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green SH2D1A in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red SH2D1A in Cataract Level 2: Ophthalmological disorders Version 0.366	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services
Green SH2D1A in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 0.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SH2D1A in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Green SH2D1A in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 0.135 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green
Green SH2D1A in Disorders of immune dysregulation Level 2: Immunological disorders Version 0.186 Component of the following Super Panels: Immunological disorders_SuperPanel	review	Unknown	Sources Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Expert Review Green
Green SH2D1A in Susceptibility to Viral Infections Level 2: Immunological disorders Version 0.117 Component of the following Super Panels: Immunological disorders_SuperPanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Host response to EBV infection Lymphoproliferative syndrome, X-linked, 1 308240
Red SH2D1A in TCGA_PANCAN_2018 Version 0.2	review	Other	Sources TCGA_PANCAN_2018 Phenotypes Lymphoproliferative syndrome 1, X-linked
Green SH2D1A in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
Green SH2D1A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Lymphoproliferative syndrome
Green SH2D1A in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome, X-linked, 1, MIM# 308240
Green SH2D1A in Prepair 1000+ Level 2: Screening Version 1.9	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
Green SH2D1A in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Lymphoproliferative syndrome, X-linked, 1, MIM# 308240 Tags treatable immunological