Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.80
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Enzyme Disorder
- Hemolytic anemia due to hexokinase deficiency, 235700
|
Version 1.9
Signed off v.1.2
on 3 Mar 2020
|
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
- 235700 Hemolytic anemia due to hexokinase deficiency
- Hemolytic anemia due to hexokinase deficiency, 235700
- 235700 Enzyme Disorder
- Hemolytic anemia due to hexokinase deficiency
- Enzyme Disorder
|
Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.381
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- London North GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neuropathy, hereditary motor and sensory, Russe type, 605285
- Hemolytic anemia due to hexokinase deficiency, 235700
- Neuropathy, hereditary motor and sensory, Russe type, 605285
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.714
Signed off v.3.2
on 13 Feb 2020
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Hemolytic anemia due to hexokinase deficiency, 235700
- Neuropathy, hereditary motor and sensory, Russe type, 605285
- Abnormal muscle tone
- Global developmental delay
- Intellectual disability
- Visual impairment
- Neurological speech impairment
- Ataxia
Tags
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.120
Signed off v.2.7
on 25 Feb 2020
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Amber
- Other
Phenotypes
- Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320
Tags
- for-review
- founder-effect
|
Version 1.19
Signed off v.1.2
on 27 Feb 2020
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- London North GLH
- NHS GMS
- NHS GMS
- London North GLH
Phenotypes
- Neuropathy, hereditary motor and sensory, Russe type, 605285
- Hemolytic anemia due to hexokinase deficiency, 235700
|
Version 1.42
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Retinitis pigmentosa 79, 617460
- Hemolytic anemia due to hexokinase deficiency, 235700
- Neurodevelopmental disorder with visual defects and brain anomalies, 618547
- Neuropathy, hereditary motor and sensory, Russe type, 605285
|