Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Eligibility statement prior genetic testing
Phenotypes
- Anemia, sideroblastic, 2, pyridoxine-refractory 205950
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 205950 Pyridoxine refractory sideroblastic anaemia 2
- 205950 Anemia, sideroblastic, 2, pyridoxine-refractory
- Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
|
Version 2.6
Latest signed off version: v2.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- London South GLH
- NHS GMS
- Wessex and West Midlands GLH
Phenotypes
- Anemia, sideroblastic, 2, pyridoxine-refractory OMIM:205950
- sideroblastic anemia 2 MONDO:0008785
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- nonsyndromic autosomal recessive congenital sideroblastic anemia
- congenital sideroblastic anemias
- severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
|
Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
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
- severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
- Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
- nonsyndromic autosomal recessive congenital sideroblastic anemia
- congenital sideroblastic anemias
|
Version 3.105
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
|
Version 3.88
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
- ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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
- Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.169
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- nonsyndromic autosomal recessive congenital sideroblastic anemia
- congenital sideroblastic anemias
- severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
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
- Anemia, sideroblastic, 2, pyridoxine-refractory, 205950
|