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Proteinuric renal disease v1.216 | DLC1 | Eleanor Williams Classified gene: DLC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.216 | DLC1 | Eleanor Williams Added comment: Comment on list classification: Plausible disease causing variants found in more than 3 cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.216 | DLC1 | Eleanor Williams Gene: dlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.54 | DLC1 | Eleanor Williams Phenotypes for gene: DLC1 were changed from to Childhood and adult SSNS and SRNS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.53 | DLC1 | Eleanor Williams Publications for gene: DLC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.52 | DLC1 | Eleanor Williams Mode of inheritance for gene: DLC1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.51 | DLC1 | Eleanor Williams Classified gene: DLC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.51 | DLC1 | Eleanor Williams Added comment: Comment on list classification: Plausible disease causing variants found in more than 3 cases. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.51 | DLC1 | Eleanor Williams Gene: dlc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.50 | DLC1 |
Eleanor Williams commented on gene: DLC1: In OMIM this gene is only associated with Colorectal cancer, somatic, not a relevant phenotype. PMID: 29773874 -performed homozygosity mapping combined with whole exome sequencing in multiple families with Nephrotic Syndrome. Also performed high-throughput exon sequencing in a worldwide cohort of ~1000 additional families with NS, examining specific candidate genes for NS based on genetic mouse models of NS. We identified recessive mutations of DLC1 in 4 families with NS. 6 different variants. Two individuals were compound heterozygous, two were homozygous. Families of different ethnicities. |
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Proteinuric renal disease v1.16 | DLC1 | Eleanor Williams reviewed gene: DLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 29773874; Phenotypes: Childhood and adult SSNS and SRNS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Proteinuric renal disease v1.15 | DLC1 |
Eleanor Williams gene: DLC1 was added gene: DLC1 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: DLC1 was set to |