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Fetal anomalies v0.4205 HOXA11 Zornitza Stark Marked gene: HOXA11 as ready
Fetal anomalies v0.4205 HOXA11 Zornitza Stark Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4177 HOXA11 Chirag Patel Classified gene: HOXA11 as Amber List (moderate evidence)
Fetal anomalies v0.4177 HOXA11 Chirag Patel Gene: hoxa11 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.4176 HOXA11 Chirag Patel gene: HOXA11 was added
gene: HOXA11 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: HOXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HOXA11 were set to PubMed: 11101832
Phenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 , OMIM #605432
Review for gene: HOXA11 was set to AMBER
Added comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. A heterozygous mutation in the HOXA11 gene was found in affected members of 2 families segregating radioulnar synostosis and amegakaryocytic thrombocytopenia.
Sources: Literature
Fetal anomalies v0.2249 HOXA13 Zornitza Stark Marked gene: HOXA13 as ready
Fetal anomalies v0.2249 HOXA13 Zornitza Stark Gene: hoxa13 has been classified as Green List (High Evidence).
Fetal anomalies v0.2249 HOXA13 Zornitza Stark Phenotypes for gene: HOXA13 were changed from HAND-FOOT-GENITAL SYNDROME to Hand-foot-uterus syndrome, MIM# 140000
Fetal anomalies v0.2248 HOXA13 Zornitza Stark Mode of inheritance for gene: HOXA13 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.238 HOXA1 Zornitza Stark Marked gene: HOXA1 as ready
Fetal anomalies v0.238 HOXA1 Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence).
Fetal anomalies v0.238 HOXA1 Zornitza Stark Phenotypes for gene: HOXA1 were changed from BOSLEY-SALIH-ALORAINY SYNDROME; ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536
Fetal anomalies v0.237 HOXA1 Zornitza Stark Publications for gene: HOXA1 were set to
Fetal anomalies v0.236 HOXA1 Zornitza Stark Tag founder tag was added to gene: HOXA1.
Fetal anomalies v0.236 HOXA1 Zornitza Stark reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.143 HOXA1 Ain Roesley reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155570, 18412118, 32864817; Phenotypes: Athabaskan brainstem dysgenesis syndrome MIM#601536, Bosley-Salih-Alorainy syndrome MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 HOXA13 Zornitza Stark gene: HOXA13 was added
gene: HOXA13 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HOXA13 were set to HAND-FOOT-GENITAL SYNDROME
Fetal anomalies v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to BOSLEY-SALIH-ALORAINY SYNDROME; ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME