Bleeding and platelet disordersGene: IKZF5
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least 7 unrelated families with thrombocytopenia associated with different missense variants in the IKZF5 gene.
Created: 11 Aug 2020, 3:03 p.m. | Last Modified: 17 Sep 2020, 11:48 a.m.
Panel Version: 1.8
New gene suggested by expert reviewer- unable to do a full curational review (Green rating recommended) as we are waiting for new PanelApp features before this gene can be added to this GMS panel.
Created: 29 Jan 2020, 9:48 a.m. | Last Modified: 29 Jan 2020, 9:48 a.m.
Panel Version: 1.0
Lentaigne C, et al., 2019 (PMID - 31217188) details the association of thrombocytopenia with missense variants in the IKZF5 transcription factor. Five different missense variants in or near the IKZF5 zinc finger domains are reported in five independent probands. Co-segregation studies indicate that two variants occurred de novo and three co-segregate across large pedigrees.
Mode of pathogenicity is unknown.
Sources: Expert Review, Literature
Created: 25 Jan 2020, 12:51 p.m. | Last Modified: 4 Aug 2020, 4:20 p.m.
Panel Version: 1.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528).
Mode of pathogenicity
Publications for gene: IKZF5 were set to 1217188
Gene: ikzf5 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: IKZF5.
gene: IKZF5 was added gene: IKZF5 was added to Bleeding and platelet disorders. Sources: Expert Review,Literature Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IKZF5 were set to 1217188 Phenotypes for gene: IKZF5 were set to Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528). Penetrance for gene: IKZF5 were set to unknown Mode of pathogenicity for gene: IKZF5 was set to Other Review for gene: IKZF5 was set to GREEN