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Intellectual disability

Gene: RSRC1

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 6 Jul 2020, 4:44 p.m. | Last Modified: 6 Jul 2020, 4:44 p.m.
Panel Version: 3.139
Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in unrelated families.
Created: 6 Jul 2020, 4:44 p.m. | Last Modified: 6 Jul 2020, 4:44 p.m.
Panel Version: 3.139

Zornitza Stark (Australian Genomics)

Green List (high evidence)

17 additional individuals reported.
Created: 21 Apr 2020, 3:56 a.m. | Last Modified: 21 Apr 2020, 3:56 a.m.
Panel Version: 3.29
Two unrelated families reported, 8 affected individuals.
Sources: Expert list
Created: 10 Mar 2020, 8:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 70 618402
Tags
for-review
OMIM
613352
Clinvar variants
Variants in RSRC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

6 Jul 2020, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: RSRC1.

6 Jul 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RSRC1 were set to 28640246; 29522154; 32227164

6 Jul 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RSRC1 were changed from Intellectual developmental disorder, autosomal recessive 70 618402 to Intellectual developmental disorder, autosomal recessive 70 618402

6 Jul 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RSRC1 were set to 28640246; 29522154; 32227164

6 Jul 2020, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RSRC1 were changed from Intellectual developmental disorder, autosomal recessive 70, MIM# 618402 to Intellectual developmental disorder, autosomal recessive 70 618402

6 Jul 2020, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: RSRC1 were set to 28640246; 29522154

10 Mar 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RSRC1 was added gene: RSRC1 was added to Intellectual disability. 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