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| Ataxia and cerebellar anomalies - narrow panel v2.276 | EXOSC3 | Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia, type 1B, 614678; Pontocerebellar Hypoplasia type 1B to Pontocerebellar hypoplasia, type 1B, OMIM:614678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.110 | EXOSC1 |
Zornitza Stark gene: EXOSC1 was added gene: EXOSC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC1 were set to 33463720 Phenotypes for gene: EXOSC1 were set to Pontocerebellar hypoplasia Review for gene: EXOSC1 was set to RED Added comment: An 8‐months‐old male with developmental delay, microcephaly, subtle dysmorphism, hypotonia, pontocerebellar hypoplasia and delayed myelination. Similarly affected elder sibling succumbed at the age of 4‐years 6‐months. Exome sequencing revealed a homozygous missense variant (c.104C >T, p.Ser35Leu) in EXOSC1. In silico mutagenesis revealed loss of a polar contact with neighbouring Leu37 residue. Quantitative real‐time PCR indicated no appreciable differences in EXOSC1 transcript levels. Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and EXO9 complex in the proband, respectively. Of note, bi‐allelic variants in other exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively. Sources: Literature |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | EXOSC3 |
Ellen McDonagh Added phenotypes Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia, type 1B, 614678; Pontocerebellar Hypoplasia type 1B for gene: EXOSC3 Publications for gene EXOSC3 were changed from to PMID: 24524299; PMID: 23284067; PMID: 22544365; PMID: 23564332 |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | EXOSC3 |
Ellen McDonagh gene: EXOSC3 was added gene: EXOSC3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal |
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