Activity

Filter

Cancel
Date Panel Item Activity
13 actions
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.115 DACT1 Zornitza Stark Classified gene: DACT1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.115 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.114 DACT1 Paul De Fazio reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36066768; Phenotypes: Townes-Brocks syndrome 2 MONDO:0054582; Mode of inheritance: None; Current diagnostic: yes
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DACT1 Zornitza Stark Added comment: Comment when marking as ready: Changed to Red after review against GEL gene-disease assessment.
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.57 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 DACT1 Zornitza Stark Classified gene: DACT1 as Red List (low evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.40 DACT1 Zornitza Stark Gene: dact1 has been classified as Red List (Low Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.10 DACT1 Zornitza Stark Marked gene: DACT1 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.10 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.10 DACT1 Zornitza Stark Classified gene: DACT1 as Amber List (moderate evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.10 DACT1 Zornitza Stark Gene: dact1 has been classified as Amber List (Moderate Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.9 DACT1 Zornitza Stark gene: DACT1 was added
gene: DACT1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic_VCGS. Sources: Expert list
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DACT1 were set to 28054444
Phenotypes for gene: DACT1 were set to Townes-Brocks syndrome 2, MIM#617466
Review for gene: DACT1 was set to AMBER
Added comment: Single multigenerational family with a heterozygous variant in this gene and features of TBS including CAKUT.
Sources: Expert list