UNC13D

unc-13 homolog D
OMIM: 608897, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green UNC13D in Vasculitis Level 2: Immunological disorders Version 0.86	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green UNC13D in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898 Tags treatable
Green UNC13D in Disorders of immune dysregulation Level 2: Immunological disorders Version 1.5 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898 Tags treatable
Red UNC13D in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 OMIM #608898
Red UNC13D in Leukodystrophy - adult onset Level 2: Neurology and neurodevelopmental disorders Version 0.143 Component of the following Super Panels: Leukodystrophy_Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 608898
Green UNC13D 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 Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)
Green UNC13D 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 Hemophagocytic lymphohistiocytosis, familial, 3
Green UNC13D in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
Green UNC13D 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 Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 Tags treatable immunological
Green UNC13D in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)