Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Renal ciliopathies v1.9 SLC41A1 Catherine Snow Deleted their comment
Renal ciliopathies v1.9 SLC41A1 Catherine Snow Deleted their comment
Renal ciliopathies v1.5 SLC41A1 Catherine Snow Classified gene: SLC41A1 as Red List (low evidence)
Renal ciliopathies v1.5 SLC41A1 Catherine Snow Added comment: Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number.
Renal ciliopathies v1.5 SLC41A1 Catherine Snow Gene: slc41a1 has been classified as Red List (Low Evidence).
Renal ciliopathies v1.4 SLC41A1 Catherine Snow Classified gene: SLC41A1 as Red List (low evidence)
Renal ciliopathies v1.4 SLC41A1 Catherine Snow Added comment: Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number.
Renal ciliopathies v1.4 SLC41A1 Catherine Snow Gene: slc41a1 has been classified as Red List (Low Evidence).
Renal ciliopathies v1.4 SLC41A1 Catherine Snow Classified gene: SLC41A1 as Red List (low evidence)
Renal ciliopathies v1.4 SLC41A1 Catherine Snow Added comment: Comment on list classification: SLC41A1 is associated with Mg2+ transport and a gene disease relationship was identified in PMID: 23661805. Since then no further cases reported and SLC41A1 has no phenotype MIM number.
Renal ciliopathies v1.4 SLC41A1 Catherine Snow Gene: slc41a1 has been classified as Red List (Low Evidence).
Renal ciliopathies v1.0 SLC41A1 Zornitza Stark gene: SLC41A1 was added
gene: SLC41A1 was added to Renal ciliopathies. Sources: Expert list
Mode of inheritance for gene: SLC41A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC41A1 were set to 23661805
Phenotypes for gene: SLC41A1 were set to Nephronophthisis
Review for gene: SLC41A1 was set to RED
Added comment: Single family reported, functional data.
Sources: Expert list