Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42
|
review
|
Not set
|
Sources
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.46
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Literature
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.169
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Microphthalmia, syndromic 9, MIM# 601186
|
Version 1.905
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MICROPHTHALMIA SYNDROMIC TYPE 9
|
Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MICROPHTHALMIA SYNDROMIC TYPE 9 601186
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.70
Latest signed off version: v2.2
(4 Mar 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- MICROPHTHALMIA, SYNDROMIC 9
- MCOPS9
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Syndromic Microphthalmia, Recessive
- Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microphthalmia, syndromic 9, 601186Microphthalmia, isolated, with coloboma 8, 601186
- MICROPHTHALMIA SYNDROMIC TYPE 9 (MCOPS9)
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.285
Latest signed off version: v2.195
(5 Aug 2021)
|
review
|
Not set
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
|
Version 1.132
Latest signed off version: v1.3
(4 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Microphthalmia, syndromic 9, 601186
- Microphthalmia, isolated, with coloboma 8, 601186
- Syndromic Microphthalmia, Recessive
|
Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Microphthalmia, isolated, with coloboma 8, 601186
- Microphthalmia, syndromic 9, 601186
|