SH2D1A

SH2 domain containing 1A
OMIM: 300490, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green SH2D1A in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Lymphoproliferative syndrome, X-linked, 1 308240
Green SH2D1A in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.16	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Curated sources Expert Review Green Phenotypes Class: miscellaneous Lymphoproliferative disease Lymphoma
Green SH2D1A in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green UKGTN Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Inflammatory Bowel Disease (Very Early Onset) Lymphoproliferative syndrome, X-linked, 1 308240
Green SH2D1A in COVID-19 research Level 2: Viral research Version 1.141	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources IUIS Classification February 2018 London North GLH GOSH PID v.8.0 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 GOSH PID v.8.0 Phenotypes EBV, HLH, Lymphoproliferation, Aplastic anaemia, Lymphoma. Hypogammaglobulinemia, Absent iNKT cells Lymphoproliferative syndrome, X-linked, 1 308240 Diseases of Immune Dysregulation X-linked lymphoproliferative syndrome (XLP) Lymphoproliferative syndrome, X-linked, 1 (XLP1)
Green SH2D1A in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.201 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	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 GOSH PID v.8.0 Phenotypes Lymphoproliferative syndrome, X-linked, 1 308240 Lymphoproliferative syndrome, X-linked, 1 (XLP1) X-linked lymphoproliferative syndrome (XLP) EBV, HLH, Lymphoproliferation, Aplastic anaemia, Lymphoma. Hypogammaglobulinemia, Absent iNKT cells Diseases of Immune Dysregulation
Green SH2D1A in Haematological malignancies cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Curated sources Phenotypes Class: miscellaneous Lymphoproliferative disease Lymphoma
Green SH2D1A in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Lymphoproliferative syndrome, X-linked, 1, 308240
Green SH2D1A in Lymphoproliferative syndrome with absent SAP expression Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS