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Intellectual disability syndromic and non-syndromic

Gene: REPS2

Amber List (moderate evidence)

REPS2 (RALBP1 associated Eps domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000169891
EnsemblGeneIds (GRCh37): ENSG00000169891
OMIM: 300317, Gene2Phenotype
REPS2 is in 3 panels

1 review

Mark Cleghorn (Royal Melbourne Hospital)

I don't know

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ESHG talk 1/6/24, unpublished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: Other
Created: 4 Sep 2024, 4:50 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

11 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: reps2 has been classified as Amber List (Moderate Evidence).

11 Sep 2024, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: reps2 has been classified as Amber List (Moderate Evidence).

4 Sep 2024, Gel status: 0

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 Intellectual disability syndromic and non-syndromic. 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