DKC1

dyskerin pseudouridine synthase 1
OMIM: 300126, Gene2Phenotype

21 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 21 panels
Amber DKC1 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert list Phenotypes Hoyeraal Hreidarsson Syndrome Dyskeratosis congenita, X-linked
Green DKC1 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Curated sources Expert Review Green Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
Green DKC1 in COVID-19 research Level 2: Viral research Version 1.146	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources IUIS Classification February 2018 London North GLH 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 Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Dyskeratosis congenita, X-linked 305000 Severe phenotype with DD and cerebellar hypoplasia Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients Combined immunodeficiencies with associated or syndromic features Hoyeraal-Hreidarsson syndrome Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, recurrent infections
Green DKC1 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Dyskeratosis congenita, X-linked, 305000 Dyskeratosis congenita associated with pulmonary fibrosis
Green DKC1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Dyskeratosis congenita, X-linked OMIM:305000 dyskeratosis congenita, X-linked MONDO:0010584
Amber DKC1 in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 6, 616353
Green DKC1 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources London North GLH NHS GMS Expert Review Green Phenotypes DKCX DYSKERATOSIS CONGENITA, X-LINKED Dyskeratosis congenita
Red DKC1 in Ductal plate malformation Version 1.31	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosis congenita, X-linked (305000)
Green DKC1 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Dyskeratosis congenita, X-linked 305000 Hoyeraal-Hreidarsson syndrome Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, recurrent infections Severe phenotype with DD and cerebellar hypoplasia Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients Combined immunodeficiencies with associated or syndromic features
Green DKC1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Phenotypes Dyskeratosis congenita Dyskeratosis congenita, X-linked, 305000
Amber DKC1 in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber NHS GMS Phenotypes Dyskeratosis congenita, autosomal recessive 6, 616353
Green DKC1 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	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 Curated sources Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
Red DKC1 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Phenotypes 305000 Dyskeratosis congenita, X-linked
Green DKC1 in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Phenotypes X-linked dyskeratosis congenita
Green DKC1 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Dyskeratosis congenita, X-linked, 305000 305000 Dyskeratosis congenita Dyskeratosis congenita
Green DKC1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, X-LINKED DKC1-RELATED DYSKERATOSIS CONGENITA
Green DKC1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, X-LINKED, 305000 DKC1-RELATED DYSKERATOSIS CONGENITA 314912
Green DKC1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Dyskeratosis congenita, X-linked, 305000 DKC1-RELATED DYSKERATOSIS CONGENITA
Red DKC1 in Proteinuric renal disease Level 2: Renal Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Literature Phenotypes steroid-resistant 6 nephrotic syndrome cataracts (prior to steroid treatment) sensorineural deafness enterocolitis
Red DKC1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green DKC1 in Pulmonary fibrosis familial Level 2: Respiratory Version 1.8 Latest signed off version: v1.3 (30 Nov 2022)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Dyskeratosis congenita, X-linked, OMIM:305000

DKC1

21 panels

Amber DKC1 in Infantile enterocolitis & monogenic inflammatory bowel disease

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Phenotypes

Green DKC1 in Haematological malignancies for rare disease

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Phenotypes

Green DKC1 in COVID-19 research

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Phenotypes

Green DKC1 in Familial pulmonary fibrosis

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Phenotypes

Green DKC1 in Ataxia and cerebellar anomalies - narrow panel

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Phenotypes

Amber DKC1 in Childhood solid tumours

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Phenotypes

Green DKC1 in Pigmentary skin disorders

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Phenotypes

Red DKC1 in Ductal plate malformation

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Phenotypes

Green DKC1 in Primary immunodeficiency or monogenic inflammatory bowel disease

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Phenotypes

Green DKC1 in Cytopenias and congenital anaemias

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Phenotypes

Amber DKC1 in Adult solid tumours cancer susceptibility

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Phenotypes

Green DKC1 in Haematological malignancies cancer susceptibility

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Phenotypes

Red DKC1 in Rare anaemia

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Phenotypes

Green DKC1 in Cerebellar hypoplasia

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Phenotypes

Green DKC1 in Cytopenia - NOT Fanconi anaemia

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Phenotypes

Green DKC1 in Fetal anomalies

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Phenotypes

Green DKC1 in DDG2P

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Phenotypes

Green DKC1 in Intellectual disability

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Red DKC1 in Proteinuric renal disease

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Phenotypes

Red DKC1 in Childhood onset dystonia, chorea or related movement disorder

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Green DKC1 in Pulmonary fibrosis familial

Sources

Phenotypes