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  2. Bleeding and Platelet Disorders
  3. IKZF5
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Bleeding and Platelet Disorders

Gene: IKZF5

Green List (high evidence)
IKZF5 (IKAROS family zinc finger 5)
EnsemblGeneIds (GRCh38): ENSG00000095574
EnsemblGeneIds (GRCh37): ENSG00000095574
OMIM: 606238, Gene2Phenotype
IKZF5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five unrelated individuals with missense variants in this gene. Two de novo, three segregated with disease.
Sources: Expert Review
Created: 26 Jan 2020, 11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopaenia 7, MIM#619130

Publications

Created: 26 Jan 2020, 11 a.m.

Panel version: 0.208

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Thrombocytopaenia 7, MIM#619130
OMIM
606238
Clinvar variants
Variants in IKZF5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IKZF5 were changed from Thrombocytopaenia to Thrombocytopaenia 7, MIM#619130

26 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikzf5 has been classified as Green List (High Evidence).

26 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ikzf5 has been classified as Green List (High Evidence).

26 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IKZF5 was added gene: IKZF5 was added to Bleeding Disorders. Sources: Expert Review Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF5 were set to 31217188 Phenotypes for gene: IKZF5 were set to Thrombocytopaenia Review for gene: IKZF5 was set to GREEN