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Renal ciliopathies v1.54 | ALMS1 | Eleanor Williams Phenotypes for gene: ALMS1 were changed from Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome to Bardet-Biedl Syndrome; Alstrom syndrome, OMIM:203800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.53 | ALMS1 | Eleanor Williams Tag for-review was removed from gene: ALMS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.51 | ALMS1 | Eleanor Williams commented on gene: ALMS1: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | ALMS1 | Eleanor Williams Tag for-review tag was added to gene: ALMS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.23 | ALMS1 | Eleanor Williams reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v1.0 | ALMS1 | Zornitza Stark reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Renal ciliopathies v0.1 | ALMS1 |
Eleanor Williams gene: ALMS1 was added gene: ALMS1 was added to Renal ciliopathies. Sources: Expert list,UKGTN,Eligibility statement prior genetic testing,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to 22773737 Phenotypes for gene: ALMS1 were set to Alstrom Syndrome; Bardet-Biedl Syndrome; 203800; Alstrom syndrome |