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| Childhood onset dystonia, chorea or related movement disorder v5.4 | YIF1B | Arina Puzriakova Added comment: Comment on phenotypes: Relevant phenotype has now been added to OMIM - Kaya-Barakat-Masson syndrome, OMIM:619125 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v5.4 | YIF1B | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.237 | YIF1B | Eleanor Williams Tag for-review was removed from gene: YIF1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.237 | YIF1B | Sarah Leigh commented on gene: YIF1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.236 | YIF1B |
Eleanor Williams Source Expert Review Green was added to YIF1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Childhood onset dystonia, chorea or related movement disorder v1.232 | YIF1B | Arina Puzriakova Tag gene-checked tag was added to gene: YIF1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.62 | YIF1B | Arina Puzriakova Classified gene: YIF1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.62 | YIF1B |
Arina Puzriakova Added comment: 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. |
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| Childhood onset dystonia, chorea or related movement disorder v1.62 | YIF1B | Arina Puzriakova Gene: yif1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v1.61 | YIF1B |
Arina Puzriakova 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 Added comment: - 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 |
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