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Intellectual disability syndromic and non-syndromic

Gene: RSRC1

Green List (high evidence)

RSRC1 (arginine and serine rich coiled-coil 1)
EnsemblGeneIds (GRCh38): ENSG00000174891
EnsemblGeneIds (GRCh37): ENSG00000174891
OMIM: 613352, Gene2Phenotype
RSRC1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

2020: 17 additional individuals reported.
Created: 21 Apr 2020, 3:54 a.m. | Last Modified: 21 Apr 2020, 3:54 a.m.
Panel Version: 0.2578
Two unrelated families reported, 8 affected individuals.
Sources: Expert list
Created: 4 Jan 2020, 9:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 70, MIM# 618402

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 70, MIM# 618402
OMIM
613352
Clinvar variants
Variants in RSRC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rsrc1 has been classified as Green List (High Evidence).

4 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rsrc1 has been classified as Amber List (Moderate Evidence).

4 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rsrc1 has been classified as Amber List (Moderate Evidence).

4 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RSRC1 was added gene: RSRC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSRC1 were set to 28640246; 29522154 Phenotypes for gene: RSRC1 were set to Intellectual developmental disorder, autosomal recessive 70, MIM# 618402 Review for gene: RSRC1 was set to AMBER