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Prepair 1000+

Gene: YIF1B

Red List (low evidence)

YIF1B (Yip1 interacting factor homolog B, membrane trafficking protein)
EnsemblGeneIds (GRCh38): ENSG00000167645
EnsemblGeneIds (GRCh37): ENSG00000167645
YIF1B is in 8 panels

2 reviews

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Kaya-Barakat-Masson syndrome (KABAMAS) is a severe autosomal recessive neurodevelopmental disorder characterized by profoundly impaired global development, peripheral spasticity, dystonia, impaired intellectual development with absent speech, poor eye contact, and feeding difficulties, resulting in poor overall growth, sometimes with microcephaly.

Additional more variable features include early-onset seizures, ocular anomalies, foot deformities, and nonspecific brain imaging findings, such as thin corpus callosum and cerebral, cerebellar, or pontine atrophy. Some patients may die in infancy or early childhood.

The phenotype of individuals with biallelic protein-truncating variants tends to be more severe compared to that of individuals with biallelic missense variants. This might be due to residual activity of YIF1B (GeneReviews PMID: 39265055).

I believe this gene should be green for Prepair, currently Red (see MM review).
Created: 21 Jan 2025, 3:23 a.m. | Last Modified: 21 Jan 2025, 3:23 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kaya-Barakat-Masson syndrome MIM#619125

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE gene-disease association by ClinGen. Over 20 individuals now reported in the literature.
Created: 18 Aug 2024, 2:59 a.m. | Last Modified: 18 Aug 2024, 2:59 a.m.
Panel Version: 1.168
6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). 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 enrichement in in genes important for nervous system development and function.
Created: 18 Aug 2024, 2:57 a.m. | Last Modified: 18 Aug 2024, 2:57 a.m.
Panel Version: 1.168

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kaya-Barakat-Masson syndrome, MIM# 619125

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Kaya-Barakat-Masson syndrome, MIM# 619125
Tags
for review
Clinvar variants
Variants in YIF1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: yif1b has been classified as Red List (Low Evidence).

22 Aug 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Aug 2024, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: YIF1B.

1 Jun 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: YIF1B was added gene: YIF1B was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIF1B were set to 32006098; 26077767 Phenotypes for gene: YIF1B were set to Abnormality of movement; Seizures; Failure to thrive; Spasticity; Central hypotonia; Intellectual disability; Global developmental delay; Microcephaly