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Microcephaly v1.4 YIPF5 Zornitza Stark Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Microcephaly v1.3 YIPF5 Zornitza Stark edited their review of gene: YIPF5: Changed phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278
Microcephaly v0.501 YIPF5 Zornitza Stark Marked gene: YIPF5 as ready
Microcephaly v0.501 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Microcephaly v0.501 YIPF5 Zornitza Stark Classified gene: YIPF5 as Green List (high evidence)
Microcephaly v0.501 YIPF5 Zornitza Stark Gene: yipf5 has been classified as Green List (High Evidence).
Microcephaly v0.500 YIPF5 Zornitza Stark 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
Added comment: 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