DKC1

dyskerin pseudouridine synthase 1
OMIM: 300126, ClinGen, DECIPHER

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green DKC1 in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome
Green DKC1 in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome
Green DKC1 in Inflammatory bowel disease Level 2: Gastroenterological disorders Version 1.0	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Phenotypes Dyskeratosis congenita, X-linked, MIM# 305000
Green DKC1 in Mendeliome Version 2.0	3 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert Review Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome
Green DKC1 in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome
Green DKC1 in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green DKC1 in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, X-linked MIM# 305000 Bone marrow failure, pulmonary & hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation microcephaly, immunodeficiency aplastic anaemia thrombocytopaenia neurodevelopmental delay cerebellar hypoplasia opportunistic infections
Green DKC1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genetic Health Queensland Phenotypes DKC1-related disorder MONDO:0100152
Green DKC1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, X-linked, 305000 (3)
Amber DKC1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber BabySeq Category B gene Phenotypes Dyskeratosis congenita
Red DKC1 in Red cell disorders Level 2: Haematological disorders Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Yorkshire and North East GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson Syndrome
Green DKC1 in Fetal anomalies Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Genomics England PanelApp Phenotypes Dyskeratosis congenita, X-linked MIM#305000 Hoyeraal-Hreidarsson syndrome (HHS)
Green DKC1 in IBMDx study Version 1.0	1 review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Hoyeraal-Hreidarsson Syndrome Dyskeratosis congenita, X-linked 305000
Green DKC1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, X-linked MIM#305000
Red DKC1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category B gene BeginNGS Phenotypes Dyskeratosis congenita, X-linked, MIM# 305000
Green DKC1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Mackenzie's Mission Phenotypes Dyskeratosis congenita, X-linked MIM#305000
Green DKC1 in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 2.0	3 reviews	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 Expert list Expert Review Victorian Clinical Genetics Services Phenotypes dyskeratosis congenita, X-linked MONDO:0010584