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Intellectual disability

Gene: RUSC2

Amber List (moderate evidence)

RUSC2 (RUN and SH3 domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000198853
EnsemblGeneIds (GRCh37): ENSG00000198853
OMIM: 611053, Gene2Phenotype
RUSC2 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 2 variants reported in at least 2 unrelated cases. No functional studies have been reported, although authors of PMID 27612186 suggest that p.R866* results in total loss of function as the sibs biallelic with this variant have a more severe phenotype than the case who is biallelic for p.R1318*, which they conclude results in partial loss of function.
Created: 13 Jul 2020, 4:15 p.m. | Last Modified: 13 Jul 2020, 4:15 p.m.
Panel Version: 3.163

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated families reported.
Sources: Expert list
Created: 10 Mar 2020, 8:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 61, MIM# 617773

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mental retardation, autosomal recessive 61 617773
OMIM
611053
Clinvar variants
Variants in RUSC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: rusc2 has been classified as Amber List (Moderate Evidence).

13 Jul 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RUSC2 were changed from Mental retardation, autosomal recessive 61, MIM# 617773 to Mental retardation, autosomal recessive 61 617773

10 Mar 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: RUSC2 was added gene: RUSC2 was added to Intellectual disability. Sources: Expert list Mode of inheritance for gene: RUSC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RUSC2 were set to 27612186 Phenotypes for gene: RUSC2 were set to Mental retardation, autosomal recessive 61, MIM# 617773 Review for gene: RUSC2 was set to AMBER