Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Deafness_IsolatedAndComplex v1.34 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to 20346435; 20472657; 25919374; 14534255; 22357859; 29849575; 29309402; 31655630
Deafness_IsolatedAndComplex v1.33 PTPRQ Zornitza Stark commented on gene: PTPRQ: Further heterozygous variants reported in PMID 33229591.
Deafness_IsolatedAndComplex v1.33 PTPRQ Zornitza Stark edited their review of gene: PTPRQ: Changed publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630, 33229591
Deafness_IsolatedAndComplex v0.555 PTPRQ Zornitza Stark Phenotypes for gene: PTPRQ were changed from Deafness, autosomal recessive 84A, MIM# 613391 to Deafness, autosomal recessive 84A, MIM# 613391; Deafness, autosomal dominant 73, MIM# 617663
Deafness_IsolatedAndComplex v0.554 PTPRQ Zornitza Stark edited their review of gene: PTPRQ: Changed phenotypes: Deafness, autosomal recessive 84A, MIM# 613391, Deafness, autosomal dominant 73, MIM# 617663
Deafness_IsolatedAndComplex v0.554 PTPRQ Zornitza Stark Marked gene: PTPRQ as ready
Deafness_IsolatedAndComplex v0.554 PTPRQ Zornitza Stark Gene: ptprq has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v0.554 PTPRQ Zornitza Stark Phenotypes for gene: PTPRQ were changed from to Deafness, autosomal recessive 84A, MIM# 613391
Deafness_IsolatedAndComplex v0.553 PTPRQ Zornitza Stark Publications for gene: PTPRQ were set to
Deafness_IsolatedAndComplex v0.552 PTPRQ Zornitza Stark Mode of inheritance for gene: PTPRQ was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.551 PTPRQ Zornitza Stark reviewed gene: PTPRQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20346435, 20472657, 25919374, 14534255, 22357859, 29849575, 29309402, 31655630; Phenotypes: Deafness, autosomal recessive 84A, MIM# 613391; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v0.0 PTPRQ Zornitza Stark gene: PTPRQ was added
gene: PTPRQ was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship
Mode of inheritance for gene: PTPRQ was set to Unknown