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  3. YIPF5
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Microcephaly

Gene: YIPF5

Green List (high evidence)
YIPF5 (Yip1 domain family member 5)
EnsemblGeneIds (GRCh38): ENSG00000145817
EnsemblGeneIds (GRCh37): ENSG00000145817
OMIM: 611483, Gene2Phenotype
YIPF5 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six individuals from 5 unrelated consanguineous families reported with bi-allelic variants in this gene and neonatal/early-onset diabetes, severe microcephaly, and epilepsy. Functional data supports gene-disease association.
Sources: Literature
Created: 3 Dec 2020, 11:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278

Publications

Created: 3 Dec 2020, 11:52 p.m.

Panel version: 1.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
OMIM
611483
Clinvar variants
Variants in YIPF5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278

3 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: yipf5 has been classified as Green List (High Evidence).

3 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: yipf5 has been classified as Green List (High Evidence).

3 Dec 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: YIPF5 was added gene: YIPF5 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIPF5 were set to 33164986 Phenotypes for gene: YIPF5 were set to Neonatal diabetes; microcephaly; seizures Review for gene: YIPF5 was set to GREEN