Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Intellectual disability syndromic and non-syndromic v0.6905 STN1 Zornitza Stark Marked gene: STN1 as ready
Intellectual disability syndromic and non-syndromic v0.6905 STN1 Zornitza Stark Gene: stn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.6905 STN1 Zornitza Stark Phenotypes for gene: STN1 were changed from cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341
Intellectual disability syndromic and non-syndromic v0.3132 STN1 Sue White Classified gene: STN1 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.3132 STN1 Sue White Gene: stn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.3131 STN1 Sue White gene: STN1 was added
gene: STN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STN1 were set to 32627942; 27432940
Phenotypes for gene: STN1 were set to cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis
Penetrance for gene: STN1 were set to Complete
Added comment: 3 unrelated patients reported with Coats-plus syndrome. Developmental delay noted in two.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Marked gene: ASTN1 as ready
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Classified gene: ASTN1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.801 ASTN1 Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.3 ASTN1 Zornitza Stark gene: ASTN1 was added
gene: ASTN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list
Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891
Review for gene: ASTN1 was set to GREEN
gene: ASTN1 was marked as current diagnostic
Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation.
Sources: Expert list