Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.17
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Curated sources
- Expert Review Red
- Expert Review Red
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
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Level 2: Viral research
Version 1.142
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- IUIS Classification February 2018
- IUIS Classification December 2019
- GRID V2.0
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- IUIS Classification December 2019
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Dyskeratosis congenita
- Hoyeraal-Hreidarsson syndrome
- Bone marrow failure
- Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
- Dyskeratosis congenita 1
- Combined immunodeficiencies with associated or syndromic features
- 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
- microcephaly, neurodevelopmental delay
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Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
Phenotypes
- {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743
Tags
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Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Dyskeratosis congenita, autosomal dominant 1, 127550
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Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
- Dyskeratosis congenita
- DKCA1
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Version 1.29
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dyskeratosiscongenita, autosomal dominant 1 (127550)
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Version 1.31
Latest signed off version: v1.26
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- NHS GMS
- NHS GMS
- Radboud University Medical Center, Nijmegen
Phenotypes
- Dyskeratosiscongenita, autosomal dominant 1, OMIM:127550
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Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Dyskeratosis congenita, autosomal dominant 1, OMIM:127550
- {Aplastic anemia}, OMIM:614743
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- IUIS Classification December 2019
- Expert Review Amber
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- 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
- Hoyeraal-Hreidarsson syndrome
- microcephaly, neurodevelopmental delay
- Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
- Bone marrow failure
- Dyskeratosis congenita 1
- Combined immunodeficiencies with associated or syndromic features
Tags
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- UKGTN
- Expert list
- Eligibility statement prior genetic testing
Phenotypes
- Inherited Bone Marrow Failure Syndromes
- Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
- Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2
- Dyskeratosis congenita
- Dyskeratosis Congenita, Autosomal Dominant, 1
- Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1
Tags
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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)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Dyskeratosis congenita, autosomal dominant 1, 127550
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
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
|
Version 3.33
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
- 614743 pulmonary fibrosis and/or bone marrow failure
- 129550 Dyskeratosis congenita, autosomal dominant 1
- Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2
- Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1
- 127550 Dyskeratosis congenita, autosomal dominant 1
- Dyskeratosis congenita
- Dyskeratosis Congenita, Autosomal Dominant, 1
- Inherited Bone Marrow Failure Syndromes
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Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- Dyskeratosis congenita, autosomal dominant 1
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Dyskeratosis congenita, autosomal dominant 1, 127550
|
Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.7
Latest signed off version: v1.3
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:614743
|