Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Meier-Gorlin syndrome 5, OMIM:613805
- patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia
|
Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.27
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Meier-Gorlin syndrome 5, OMIM:613805
- Bilateral Microtia
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Other
- Expert list
Phenotypes
- Meier-Gorlin syndrome 5, OMIM:613805
- Microcephalic primordial dwarfism
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Meier-Gorlin syndrome 5, OMIM:613805
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Meier-Gorlin syndrome 5, OMIM:613805
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MEIER-GORLIN SYNDROME 5 613805
|
Version 3.95
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
Phenotypes
- Meier-Gorlin syndrome 5, OMIM:613805
- patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Meier-Gorlin syndrome 5, OMIM:613805
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Amber
- Expert list
Phenotypes
- ?Meier-Gorlin syndrome 5, 613805
|