Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Hoyeraal Hreidarsson Syndrome
- Dyskeratosis congenita, autosomal dominant 4
- Dyskeratosis congenita, autosomal recessive 5
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Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Curated sources
- Expert Review Green
Phenotypes
- Class: BM failure syndrome (typ AR)
- Dyskeratosis congenita
- MDS, AML
- Oral and GI squamous cell carcinoma
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
|
Level 2: Viral research
Version 1.142
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
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
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Combined immunodeficiencies with associated or syndromic features
- Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 615190
- Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
- Dyskeratosis congenita, 5 615190
|
Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Dyskeratosis congenita, autosomal recessive 5 615190
- 615190 DC type 4 and 5
- 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related
- Dyskeratosis congenita, autosomal dominant 4, 615190
- Dyskeratosis congenita, autosomal recessive 5, 615190
- 615190 Dyskeratosis congenita
- 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
|
Version 1.29
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dyskeratosis congenita, autosomal recessive 5 (615190)
- Dyskeratosiscongenita, autosomal dominant 4 (615190)
|
Version 1.31
Latest signed off version: v1.26
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- NHS GMS
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dyskeratosis congenita, autosomal recessive 5 (615190)
- Dyskeratosiscongenita, autosomal dominant 4 (615190)
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Research
- Literature
Phenotypes
- Dyskeratosis congenita, autosomal dominant 4, OMIM:615190
- Dyskeratosis congenita, autosomal recessive 5, OMIM:615190
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- 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
Phenotypes
- Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 615190
- Dyskeratosis congenita, 5 615190
- Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
- Combined immunodeficiencies with associated or syndromic features
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Dyskeratosis congenita, autosomal recessive 5 615190
- Dyskeratosis congenita, autosomal dominant 4 615190
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.29
Latest signed off version: v2.2
(18 Feb 2020)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Dyskeratosis congenita, autosomal recessive 5 615190
- 615190 DC type 4 and 5
- 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related
- Dyskeratosis congenita, autosomal dominant 4, 615190
- Dyskeratosis congenita, autosomal recessive 5, 615190
- 615190 Dyskeratosis congenita
- 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Curated sources
Phenotypes
- Class: BM failure syndrome (typ AR)
- Dyskeratosis congenita
- MDS, AML
- Oral and GI squamous cell carcinoma
|
Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related
- 615190 Dyskeratosis congenita
- 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
- 615190 DC type 4 and 5
- Dyskeratosis congenita, autosomal dominant 4, 615190
- Dyskeratosis congenita, autosomal recessive 5, 615190
- Dyskeratosis congenita, autosomal recessive 5 615190
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Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4
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Version 3.90
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Dyskeratosis congenita, autosomal dominant 4, 615190
- Dyskeratosis congenita, autosomal recessive 5, 615190
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373
|
Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.7
Latest signed off version: v1.3
(30 Nov 2022)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, OMIM:616373
|