Bleeding and platelet disorders

Gene: IKZF5

Amber List (moderate evidence)

IKZF5 (IKAROS family zinc finger 5)
EnsemblGeneIds (GRCh38): ENSG00000095574
EnsemblGeneIds (GRCh37): ENSG00000095574
OMIM: 606238, Gene2Phenotype
IKZF5 is in 2 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

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

Arina Puzriakova (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

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

Kate Downes (Uni of Cambridge / CUH)

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

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Thrombocytopenia (HP:0001873), Reduced platelet alpha granules (HP:0012528).
Tags
for-review
OMIM
606238
Clinvar variants
Variants in IKZF5
Penetrance
unknown
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

17 Sep 2020, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: IKZF5 were set to 1217188

11 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ikzf5 has been classified as Amber List (Moderate Evidence).

11 Aug 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: IKZF5.

25 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Kate Downes (Uni of Cambridge / CUH)

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