Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3
|
review
|
Not set
|
Sources
- Expert Review Red
- Literature
|
Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.176
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Macrothrombocytopenia and sensorineural hearing loss
|
Version 4.196
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Literature
- Expert Review
Phenotypes
- Seizures, cortical blindness, microcephaly syndrome, OMIM:616632
Tags
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.66
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- microcephaly, blindness and early onset seizures
- severe visual impairment, intellectual disability, and short stature
- Seizures, cortical blindness, microcephaly syndrome, 616632
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- (NO OMIM NUMBER)
- 124900 Macrothrombocytopenia and hearing loss
- Macrothrombocytopenia and hearing loss
|
Version 3.27
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
Phenotypes
- Macrothrombocytopenia and hearing loss
- Deafness, autosomal dominant 1, 124900
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Seizures, cortical blindness, microcephaly syndrome, 616632
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.26
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Nonsyndromic Hearing Loss, Mixed
- Deafness, autosomal dominant 1, 124900
- hearing loss
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Other
- Expert Review Green
Phenotypes
- Seizures, cortical blindness, microcephaly syndrome, MIM:616632
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
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 Green
- Other
Phenotypes
- Seizures, cortical blindness, microcephaly syndrome, 616632
- developmental delay
- intellectual disability
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
Not set
|
Sources
Phenotypes
- Deafness, autosomal dominant 1 124900
- Seizures, cortical blindness, microcephaly syndrome 616632
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Deafness, autosomal dominant 1, 124900
- Seizures, cortical blindness, microcephaly syndrome, 616632
|