Severe microcephalyGene: YIPF5
Comment on list classification: New gene added and rated Green by Zornitza Stark. Sufficient evidence and appropriate phenotype (all affected individuals present progressive severe microcephaly, generalised tonic clonic seizures with onset at 1 - 7 months, diabetes diagnosed at 4 weeks - 15 months, and 5/6 also had severe DD) for inclusion on this panel: 6 patients from 5 families with different YIPF5 variants identified in PMID: 33164986. Functional analysis demonstrated that YIPF5 deficiency enhances ER stress and sensitises beta-cells to ER stress-induced apoptosis.
YIPF5 is also associated with a relevant phenotype in OMIM (MIM# 619278) but is not yet listed in G2P.
There is enough evidence to rate this gene as Green at the next GMS panel update.
Created: 19 May 2021, 2:04 p.m. | Last Modified: 19 May 2021, 2:04 p.m.
Panel Version: 2.170
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.
Created: 9 Dec 2020, 7:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes; microcephaly; seizures
Tag Q2_21_rating tag was added to gene: YIPF5.
Gene: yipf5 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
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