Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.19
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Homocystinuria, B6-responsive and nonresponsive types 236200
- Thrombosis, hyperhomocysteinemic 236200
|
Version 0.11
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- ClinGen
- Expert Review Red
Phenotypes
- Familial thoracic aortic aneurysm and aortic dissection
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Homocystinuria, AR
- Homocystinuria B6-responsive and nonresponsive types
- confirmed DD gene for CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- South West GLH
- South West GLH
Phenotypes
- Marfan syndrome
- Homocystinuria, B6-responsive and nonresponsive types, 236200
|
Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- South West GLH
- Expert list
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Homocystinuria, B6-responsive and nonresponsive types 236200
- Thrombosis, hyperhomocysteinemic 236200
Tags
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Homocystinuria, B6-responsive and nonresponsive types
|
Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Homocystinuria, B6-responsive and nonresponsive types, OMIM:236200
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
|
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
- CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
|
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
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Homocystinuria, B6-responsive and nonresponsive types, 236200
- Thrombosis, hyperhomocysteinemic, 236200
- CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (CBSD)
|
Version 3.79
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Homocystinuria, B6-responsive and nonresponsive types (includes ectopia lentis), 236200
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Thrombosis, hyperhomocysteinemic, 236200
- Homocystinuria, B6-responsive and nonresponsive types, 236200
|