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  3. YIF1B
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Childhood onset dystonia, chorea or related movement disorder

Gene: YIF1B

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

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 19 Jun 2022, 11:23 p.m. | Last Modified: 19 Jun 2022, 11:23 p.m.
Panel Version: 1.237
Created: 19 Jun 2022, 11:23 p.m.
Last Modified: 19 Jun 2022, 11:23 p.m.
Panel version: 1.237

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125
Created: 3 Oct 2024, 9:56 a.m. | Last Modified: 3 Oct 2024, 9:56 a.m.
Panel Version: 5.4
Comment on list classification: There is a sufficient number of cases to rate this gene Green at the next major review.

Profound delay in motor development is part of the phenotype, as well as dystonia, spasticity and dyskinesia.
Created: 6 Oct 2020, 3:52 p.m. | Last Modified: 6 Oct 2020, 3:52 p.m.
Panel Version: 1.62
- PMID: 32006098 - 6 individuals (from 5 families) with biallelic YIF1B truncating variants. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder including dystonia (5/6), spasticity (6/6), dyskinesia (5/5). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3.

Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*.

Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichment in genes important for nervous system development and function.
Sources: Expert list
Created: 6 Oct 2020, 3:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement

Publications

Created: 6 Oct 2020, 3:47 p.m.

Panel version: 1.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, OMIM:619125

19 Jun 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from gene: YIF1B.

19 Jun 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to YIF1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 May 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

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

6 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: yif1b has been classified as Amber List (Moderate Evidence).

6 Oct 2020, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: YIF1B was added gene: YIF1B was added to Childhood onset dystonia or chorea or related movement disorder. Sources: Expert list for-review tags were added to gene: YIF1B. Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIF1B were set to 32006098 Phenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement Review for gene: YIF1B was set to GREEN