Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
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Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microphthalmia, isolated, with coloboma 7, 614497[Blood group, Langereis system], 111600Dyschromatosis universalis hereditaria 3, 615402
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microphthalmia, isolated, with coloboma 7, 614497
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.168
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
Not set
|
Sources
Phenotypes
- Dyschromatosis universalis hereditaria 3 615402
- Microphthalmia, isolated, with coloboma 7 614497
- Pseudohyperkalemia, familial, 2, due to red cell leak 609153
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Microphthalmia, isolated, with coloboma 7, 614497
- [Blood group, Langereis system], 111600
- Dyschromatosis universalis hereditaria 3, 615402
|