Version 0.36
|
review
|
Not set
|
Sources
|
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
- UKGTN
- Other
- Literature
- Expert list
Phenotypes
- MCPH
- primary microcephaly
- Autosomal recessive primary microcephaly (MCPH)
- ?Microcephaly 8, primary, autosomal recessive, 614673
- Primary Microcephaly and Disturbed Centrosomal Function, 614673
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- Microcephaly 8, primary, autosomal recessive, OMIM:614673
- Microcephaly 8, primary, autosomal recessive, MONDO:0013849
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673
|
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
- Radboud University Medical Center, Nijmegen
Phenotypes
- Microcephaly 8, primary, autosomal recessive, 614673
- PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Microcephaly 8, primary, autosomal recessive, 614673
|