Bleeding and platelet disorders

Gene: IKZF5

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Thrombocytopenia (HP:0001873); Reduced platelet alpha granules (HP:0012528).

Publications

• PMID: 31217188
• 32419556

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 4 Mar 2022, 9:41 a.m. | Last Modified: 4 Mar 2022, 9:41 a.m.

Panel Version: 1.33

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

Green List (high evidence)

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

Green List (high evidence)

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

Phenotypes
Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528).

Publications

• 1217188

Mode of pathogenicity
Other