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| Intellectual disability v11.88 | USP14 | Achchuthan Shanmugasundram Classified gene: USP14 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.88 | USP14 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is one family reported with developmental delay/ intellectual disability. Hence, this gene should be rated red with current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.88 | USP14 | Achchuthan Shanmugasundram Gene: usp14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.87 | USP14 |
Achchuthan Shanmugasundram changed review comment from: PMID:35066879 reported the identification of a biallelic 4-bp deletion variant (p.Leu78Glnfs*11) in USP14 gene in three foetuses from two different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. sp14-deficient mice show a phenotype similar to lethal human MCC phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. PMID:38469793 reported the identification of biallelic variants in four cases (one foetus, a newborn with a syndromic neurodevelopmental disorder and two siblings with a progressive neurological disease) from three unrelated families. The two siblings had compound heterozygous variants (p.Leu3Pro and p.Arg330Ter), whereas both foetus ( p.Lys300Serfs∗24) and newborn (p.Leu78Glnfs∗11) harboured different homozygous variants. The two siblings were reported with developmental delay/ intellectual disability. This gene has been associated with relevant phenotype in Gene2Phenotype (with 'limited' rating on the DD panel), but not yet in OMIM. Sources: Literature; to: PMID:35066879 reported the identification of a biallelic 4-bp deletion variant (p.Leu78Glnfs*11) in USP14 gene in three foetuses from two different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. sp14-deficient mice show a phenotype similar to lethal human MCC phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. PMID:38469793 reported the identification of biallelic variants in four cases (one foetus, a newborn with a syndromic neurodevelopmental disorder and two siblings with a progressive neurological disease) from three unrelated families. The two siblings had compound heterozygous variants (p.Leu3Pro and p.Arg330Ter), whereas both foetus ( p.Lys300Serfs∗24) and newborn (p.Leu78Glnfs∗11) harboured different homozygous variants. The two siblings were reported with developmental delay/ intellectual disability. This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM. Sources: Literature |
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| Intellectual disability v11.87 | USP14 |
Achchuthan Shanmugasundram gene: USP14 was added gene: USP14 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 35066879; 38469793 Phenotypes for gene: USP14 were set to syndromic disease, MONDO:0002254 Review for gene: USP14 was set to RED Added comment: PMID:35066879 reported the identification of a biallelic 4-bp deletion variant (p.Leu78Glnfs*11) in USP14 gene in three foetuses from two different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. sp14-deficient mice show a phenotype similar to lethal human MCC phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. PMID:38469793 reported the identification of biallelic variants in four cases (one foetus, a newborn with a syndromic neurodevelopmental disorder and two siblings with a progressive neurological disease) from three unrelated families. The two siblings had compound heterozygous variants (p.Leu3Pro and p.Arg330Ter), whereas both foetus ( p.Lys300Serfs∗24) and newborn (p.Leu78Glnfs∗11) harboured different homozygous variants. The two siblings were reported with developmental delay/ intellectual disability. This gene has been associated with relevant phenotype in Gene2Phenotype (with 'limited' rating on the DD panel), but not yet in OMIM. Sources: Literature |
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