Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Curated sources
Phenotypes
- {Leukemia, acute myeloid}, OMIM:601626
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
|
Level 2: Viral research
Version 1.142
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review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- IUIS Classification February 2018
- GRID V2.0
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
|
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
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
|
Version 4.64
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Tags
|
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
- Expert List
Phenotypes
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
- {Leukemia, acute myeloid}, OMIM:601626
- {Melanoma, cutaneous malignant, 9}, OMIM:615134
|
Version 2.4
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- NHS GMS
- Expert List
Phenotypes
- {Melanoma, cutaneous malignant, 9}, OMIM:615134
Tags
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
|
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
|
Version 1.29
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- {Dyskeratosis congenita, autosomal dominant 2} (613989)
- {Dyskeratosis congenita, autosomal recessive 4} (613989)
|
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
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- {Dyskeratosis congenita, autosomal dominant 2}, OMIM:613989
- {Dyskeratosis congenita, autosomal recessive 4}, OMIM:613989
|
Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- {Leukemia, acute myeloid}, OMIM:601626
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- IUIS Classification February 2018
- Victorian Clinical Genetics Services
- ESID Registry 20171117
- GRID V2.0
Phenotypes
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Tags
|
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
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- Expert list
Phenotypes
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 (AD)
|
Version 2.47
Latest signed off version: v2.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Removed
- London North GLH
- NHS GMS
Phenotypes
- Melanoma
- Dyskeratosis congenita
Tags
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.27
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
- {Leukemia, acute myeloid}, OMIM:601626
- {Melanoma, cutaneous malignant, 9}, OMIM:615134
|
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 dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
- {Leukemia, acute myeloid}, OMIM:601626
- {Melanoma, cutaneous malignant, 9}, OMIM:615134
|
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
- {Leukemia, acute myeloid}, OMIM:601626
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Illumina TruGenome Clinical Sequencing Services
- Literature
- UKGTN
Phenotypes
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
|
Version 1.11
Latest signed off version: v1.2
(2 Mar 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- NHS GMS
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.65
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
|
Version 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
|
Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- Dyskeratosis congenita, autosomal recessive 4
|
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 recessive 4
|
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
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
|
Version 4.34
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
|
Version 1.81
Latest signed off version: v1.2
(18 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Other
- Literature
Phenotypes
Tags
|
Version 3.78
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
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 2}, 613989
- {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742
- {Dyskeratosis congenita, autosomal recessive 4}, 613989
|
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 and/or bone marrow failure, telomere-related, 1, OMIM:614742
|