Activity

Filter

Cancel
Date Panel Item Activity
20 actions
Bone Marrow Failure v1.44 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, MIM#224230 to Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400
Bone Marrow Failure v1.43 NOP10 Zornitza Stark Publications for gene: NOP10 were set to 17507419
Bone Marrow Failure v1.42 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v1.41 NOP10 Zornitza Stark edited their review of gene: NOP10: Added comment: PMID 32139460: multiplex family with 4 affected individuals and heterozygous variant in NOP10.; Changed rating: AMBER; Changed publications: 17507419, 32139460; Changed phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Bone Marrow Failure v1.38 NOP10 Bryony Thompson Classified gene: NOP10 as Amber List (moderate evidence)
Bone Marrow Failure v1.38 NOP10 Bryony Thompson Gene: nop10 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v1.37 NOP10 Bryony Thompson reviewed gene: NOP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 17507419, 32554502; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230, Telomere syndrome MONDO:0100137; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.8 NOP10 Zornitza Stark Marked gene: NOP10 as ready
Bone Marrow Failure v0.8 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.8 NOP10 Zornitza Stark Phenotypes for gene: NOP10 were changed from to Dyskeratosis congenita, autosomal recessive 1, MIM#224230
Bone Marrow Failure v0.7 NOP10 Zornitza Stark Publications for gene: NOP10 were set to 17507419
Bone Marrow Failure v0.6 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.5 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Bone Marrow Failure v0.5 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Publications for gene: NOP10 were set to
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Mode of inheritance for gene: NOP10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Classified gene: NOP10 as Red List (low evidence)
Bone Marrow Failure v0.4 NOP10 Zornitza Stark Gene: nop10 has been classified as Red List (Low Evidence).
Bone Marrow Failure v0.3 NOP10 Zornitza Stark reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: None; Publications: 17507419; Phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bone Marrow Failure v0.0 NOP10 Zornitza Stark gene: NOP10 was added
gene: NOP10 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NOP10 was set to Unknown