Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.16
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Curated sources
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
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Level 2: Viral research
Version 1.141
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- IUIS Classification February 2018
- London North GLH
- NHS GMS
- GRID V2.0
- North West GLH
- Victorian Clinical Genetics Services
- Expert Review Green
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- GRID V2.0
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371
- Dyskeratosis congenita, autosomal recessive 6 616353
- 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
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Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.30
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review
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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, 4, OMIM:616371
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Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.16
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
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Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- North West GLH
- London North GLH
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- Expert Review Green
- GRID V2.0
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6 616353
- Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371
- 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
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Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.29
Latest signed off version: v2.2
(18 Feb 2020)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
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Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Curated sources
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
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Version 3.27
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- NHS GMS
- London South GLH
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Dyskeratosis congenita, autosomal recessive 6, OMIM:616353
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Version 1.182
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371
- Dyskeratosis congenita, autosomal recessive 6, 616353
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Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.7
Latest signed off version: v1.3
(30 Nov 2022)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
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