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Intellectual disability v3.1511 RSRC1 Arina Puzriakova Tag for-review was removed from gene: RSRC1.
Intellectual disability v3.1510 RSRC1 Sarah Leigh commented on gene: RSRC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability v3.1509 RSRC1 Arina Puzriakova Source Expert Review Green was added to RSRC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v3.139 RSRC1 Sarah Leigh commented on gene: RSRC1: There is enough evidence for this gene to be rated GREEN at the next major review.
Intellectual disability v3.139 RSRC1 Sarah Leigh Classified gene: RSRC1 as Amber List (moderate evidence)
Intellectual disability v3.139 RSRC1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in unrelated families.
Intellectual disability v3.139 RSRC1 Sarah Leigh Gene: rsrc1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.138 RSRC1 Sarah Leigh Tag for-review tag was added to gene: RSRC1.
Intellectual disability v3.138 RSRC1 Sarah Leigh Publications for gene: RSRC1 were set to 28640246; 29522154; 32227164
Intellectual disability v3.137 RSRC1 Sarah Leigh Phenotypes for gene: RSRC1 were changed from Intellectual developmental disorder, autosomal recessive 70 618402 to Intellectual developmental disorder, autosomal recessive 70 618402
Intellectual disability v3.137 RSRC1 Sarah Leigh Publications for gene: RSRC1 were set to 28640246; 29522154; 32227164
Intellectual disability v3.136 RSRC1 Sarah Leigh Phenotypes for gene: RSRC1 were changed from Intellectual developmental disorder, autosomal recessive 70, MIM# 618402 to Intellectual developmental disorder, autosomal recessive 70 618402
Intellectual disability v3.136 RSRC1 Sarah Leigh Publications for gene: RSRC1 were set to 28640246; 29522154
Intellectual disability v3.29 RSRC1 Zornitza Stark edited their review of gene: RSRC1: Added comment: 17 additional individuals reported.; Changed rating: GREEN; Changed publications: 28640246, 29522154, 32227164; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 70, MIM# 618402; Set current diagnostic: yes
Intellectual disability v3.3 RSRC1 Zornitza Stark 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
Added comment: Two unrelated families reported, 8 affected individuals.
Sources: Expert list