Version 0.65
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- ClinGen
Phenotypes
- Dyskeratosis Congenita
- OrphaNet ORPHA1775
- OMIM613988
|
Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
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
|
Level 2: Viral research
Version 1.142
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification February 2018
- IUIS Classification December 2019
- IUIS Classification February 2018
Phenotypes
- Bone marrow failure
- Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
- 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
|
Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Dyskeratosis congenita, autosomal recessive 3, 613988
|
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Dyskeratosis congenita
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
- DKCB3
|
Version 1.29
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Dyskeratosis congenita, autosomal recessive 3 (613988)
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- IUIS Classification December 2019
- IUIS Classification February 2018
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
- microcephaly, neurodevelopmental delay
- Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
- Bone marrow failure
- Combined immunodeficiencies with associated or syndromic features
|
Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Inherited Bone Marrow Failure Syndromes
- Dyskeratosis congenita
- Dyskeratosis congenita, autosomal recessive 3, 613988
- Dyskeratosis Congenita, Recessive
- Dyskeratosis Congenita, Autosomal Recessive, 3
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.29
Latest signed off version: v2.2
(18 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Dyskeratosis congenita, autosomal recessive 3, 613988
|
Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
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 3.34
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
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 recessive 3, 613988
- 613988 Dyskeratosis congenita, autosomal recessive 3
- Dyskeratosis Congenita, Recessive
- 300299 Neutropenia, severe congenital, X-linked
- Dyskeratosis congenita
- Dyskeratosis Congenita, Autosomal Recessive, 3
- Inherited Bone Marrow Failure Syndromes
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 613988
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Dyskeratosis congenita, autosomal recessive 3, 613988
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Dyskeratosis congenita, autosomal recessive 3, 613988
|