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| Severe Combined Immunodeficiency (absent T absent B cells) v1.1 | AK2 | Zornitza Stark Tag treatable tag was added to gene: AK2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.27 | AK2 | Zornitza Stark Phenotypes for gene: AK2 were changed from Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness to Reticular dysgenesis MIM# 267500; MONDO:0009973; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark edited their review of gene: AK2: Changed publications: 19043417, 19043416, 33628209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark Marked gene: AK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark Added comment: Comment when marking as ready: Variants in this gene identified in SCID cohorts, e.g. PMID 33628209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark Gene: ak2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.26 | AK2 | Zornitza Stark Phenotypes for gene: AK2 were changed from to Reticular dysgenesis MIM# 267500; Combined immunodeficiency; neutropaenia; leukopaenia; lymphopaenia; agranulocytosis; deafness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.25 | AK2 | Zornitza Stark Publications for gene: AK2 were set to 19043417; 19043416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.24 | AK2 | Zornitza Stark Publications for gene: AK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.23 | AK2 | Zornitza Stark Mode of inheritance for gene: AK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.22 | AK2 | Zornitza Stark reviewed gene: AK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19043417, 19043416; Phenotypes: Reticular dysgenesis MIM# 267500, Combined immunodeficiency, neutropaenia, leukopaenia, lymphopaenia, agranulocytosis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Combined Immunodeficiency (absent T absent B cells) v0.0 | AK2 |
Zornitza Stark gene: AK2 was added gene: AK2 was added to Severe combined immunodeficiency (absent T, absent B cells)_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: AK2 was set to Unknown |
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