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Severe microcephaly

Gene: YIPF5

No list

YIPF5 (Yip1 domain family member 5)
EnsemblGeneIds (GRCh38): ENSG00000145817
EnsemblGeneIds (GRCh37): ENSG00000145817
OMIM: 611483, Gene2Phenotype
YIPF5 is in 1 panel

1 review

Zornitza Stark (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: 9 Dec 2020, 7:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neonatal diabetes; microcephaly; seizures

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Neonatal diabetes
  • microcephaly
  • seizures
OMIM
611483
Clinvar variants
Variants in YIPF5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: YIPF5 was added gene: YIPF5 was added to Severe 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