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  3. YIF1B
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Fetal anomalies

Gene: YIF1B

Amber List (moderate evidence)
YIF1B (Yip1 interacting factor homolog B, membrane trafficking protein)
EnsemblGeneIds (GRCh38): ENSG00000167645
EnsemblGeneIds (GRCh37): ENSG00000167645
YIF1B is in 5 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Samantha Doyle (The National Maternity Hospital)

I don't know

Amber on severe microcephaly panel and early onset syndromic epilepsy. PMID:32006098 - Non-specific brain findings (thin corpus callosum, cerebral and cerebellar atrophy) in 3 out of 6 cases, other features postnatal. PMID:33103737 - Many patients had normal brain findings. Suggest Amber, not enough information. Amber - more cases required
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kaya-Barakat-Masson syndrome, OMIM:619125

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Kaya-Barakat-Masson syndrome, OMIM:619125
Tags
gene-checked
Clinvar variants
Variants in YIF1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: YIF1B.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: YIF1B was added gene: YIF1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIF1B were set to 26077767; 32006098 Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, OMIM:619125