Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Prepair 1000+ v0.192 HBA2 Zornitza Stark Marked gene: HBA2 as ready
Prepair 1000+ v0.192 HBA2 Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.192 HBA2 Zornitza Stark Mode of inheritance for gene: HBA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.191 HBA2 Zornitza Stark Classified gene: HBA2 as Red List (low evidence)
Prepair 1000+ v0.191 HBA2 Zornitza Stark Gene: hba2 has been classified as Red List (Low Evidence).
Prepair 1000+ v0.189 HBA2 Zornitza Stark Tag for review was removed from gene: HBA2.
Prepair 1000+ v0.189 HBA2 Zornitza Stark reviewed gene: HBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v0.86 HBA2 Zornitza Stark Tag for review tag was added to gene: HBA2.
Prepair 1000+ v0.61 HBA2 Crystle Lee gene: HBA2 was added
gene: HBA2 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: HBA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HBA2 were set to Erythrocytosis 7, MIM# 617981; Heinz body anaemia, MIM# 140700; Haemoglobin H disease, deletional and nondeletional, MIM# 613978; Thalassaemia, alpha-, MIM# 604131
Review for gene: HBA2 was set to RED
Added comment: Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.

Note deletions are common.
Sources: Literature
Prepair 1000+ v0.61 HBA1 Crystle Lee gene: HBA1 was added
gene: HBA1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature
Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBA1 were set to Erythrocytosis 7, MIM# 617981; Heinz body anemias, alpha-, MIM# 140700; Methemoglobinemia, alpha type , MIM#617973; Thalassemias, alpha-, MIM# 604131; Hemoglobin H disease, nondeletional, MIM# 613978
Review for gene: HBA1 was set to RED
Added comment: Well established gene-disease associations. Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.

Note deletions are common.
Sources: Literature