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  3. RUSC2
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Microcephaly

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 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families
Created: 3 Sep 2020, 8 a.m. | Last Modified: 3 Sep 2020, 8 a.m.
Panel Version: 0.421

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 61, MIM# 617773

Publications

Created: 3 Sep 2020, 8 a.m.
Last Modified: 3 Sep 2020, 8 a.m.
Panel version: 0.421

Details

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

History Filter Activity

4 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RUSC2 were set to

4 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RUSC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

4 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RUSC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RUSC2 was added gene: RUSC2 was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RUSC2 was set to Unknown