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Intellectual disability

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

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519
Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Arina Puzriakova (Genomics England Curator)

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
Created: 19 May 2021, 2:04 p.m.
Last Modified: 19 May 2021, 2:04 p.m.
Copied from panel: Severe microcephaly v2.170

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

Created: 9 Dec 2020, 7:29 a.m.

Copied from panel: Severe microcephaly v2.170

Details

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

History Filter Activity

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating was removed from gene: YIPF5.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to YIPF5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 May 2021, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: YIPF5 was added gene: YIPF5 was added to Intellectual disability. Sources: Literature,Expert Review Amber Q2_21_rating tags were added to gene: YIPF5. 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 Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278