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| Severe microcephaly v2.293 | YIPF5 | Eleanor Williams Tag Q2_21_rating was removed from gene: YIPF5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | YIPF5 | Sarah Leigh commented on gene: YIPF5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | YIPF5 |
Eleanor Williams Source Expert Review Green was added to YIPF5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.170 | YIPF5 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: YIPF5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.170 | YIPF5 | Arina Puzriakova Classified gene: YIPF5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.170 | YIPF5 |
Arina Puzriakova Added comment: 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. |
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| Severe microcephaly v2.170 | YIPF5 | Arina Puzriakova Gene: yipf5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.169 | YIPF5 | Arina Puzriakova Phenotypes for gene: YIPF5 were changed from Neonatal diabetes; microcephaly; seizures to Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.51 | YIPF5 |
Zornitza Stark 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 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 |
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