UNC13D

unc-13 homolog D
OMIM: 608897, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green UNC13D in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	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 Hemophagocytic lymphohistiocytosis, familial 3, 608898 Diseases of Immune Dysregulation Familial hemophagocytic lymphohistiocytosis syndromes (FHLH) HPLH3 HLH3 FHL3 Fever, HSM, HLH, cytopenias,
Red UNC13D in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red
Green UNC13D in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	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 GOSH PID v.8.0 Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898 Tags age-specific-variation
Red UNC13D in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list
Amber UNC13D in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Phenotypes Increased risk of lymphoma predisposition to childhood anaplastic large cell lymphoma predisposition to leukemia increased susceptibility to malignancy
Amber UNC13D in Bleeding and platelet disorders Level 2: Haematology Version 4.6 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH
Green UNC13D in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Literature Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898