Version 0.36
|
review
|
Not set
|
Sources
|
Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Other
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Microcephaly 1, primary, autosomal recessive, OMIM:251200
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MICROCEPHALY PRIMARY TYPE 1
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MICROCEPHALY PRIMARY TYPE 1 251200
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly 1, primary, autosomal recessive, OMIM:251200
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Microcephaly 1, primary, autosomal recessive, 251200
|