Cerebral Palsy
Gene: REPS2EnsemblGeneIds (GRCh38): ENSG00000169891
EnsemblGeneIds (GRCh37): ENSG00000169891
OMIM: 300317, Gene2Phenotype
REPS2 is in 3 panels
1 review
Mark Cleghorn (Royal Melbourne Hospital)
REPS2
Hao Hu, Guangzhou Women and Children’s MC
ESHG talk 1/6/24, unpublished
Proposed X-linked cerebral palsy + NDD gene
4 unrelated males with predicted deleterious hemizygous REPS2 variants, 2 PTC, 2 missense. 2 de novo, 2 maternally inherited
Phenotypes: 2 w CP + moderate ID/ASD, 2 w NDD NOS
Variants described:
c.1050_1052delGAA;p.K351del
c.1040T>C; p.I347T
c.962C>G; p.S321C
c.1736delA; p.N579Tfs*17
In vitro assay of above 4 variants suggest reduced REPS2 protein stability
Zebrafish model: REPS2 expressed in neuronal cells, REPS2 knock down have reduced motor activity and abN neuronal morphology
Mouse model hemizygous w one of above variants (not specified): reduced performance in cognitive tasks, abnormal neuronal migration pattern on post mortem examination
Mechanism may relate to dopamine signalling?
Sources: OtherCreated: 4 Sep 2024, 4:47 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
complex neurodevelopmental disorder MONDO:0100038; Cerebral palsy HP:0100021
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Amber
- Phenotypes
-
- complex neurodevelopmental disorder MONDO:0100038
- Cerebral palsy HP:0100021
- OMIM
- 300317
- Clinvar variants
- Variants in REPS2
- Penetrance
- unknown
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: reps2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: reps2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: reps2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance
Mark Cleghorn (Royal Melbourne Hospital)gene: REPS2 was added gene: REPS2 was added to Cerebral Palsy. Sources: Other Mode of inheritance for gene: REPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: REPS2 were set to complex neurodevelopmental disorder MONDO:0100038; Cerebral palsy HP:0100021 Penetrance for gene: REPS2 were set to unknown Review for gene: REPS2 was set to AMBER