New Term Request: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

[vjenkinsFB]

I'd like to request a term for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.

OMIM: https://omim.org/entry/618387

Potential definition: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 (SCAN3) has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.

Potential parent term: autosomal recessive cerebellar ataxia

Synonyms: SCAN3

ClinVar search term: COA7[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C5193070/

MalaCards page: https://www.malacards.org/card/spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_3

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/25716

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/34322155/ Ban R, Liu Z, Shimura M, et al. Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient. Front Genet. 2021;12:685035. Published 2021 Jul 12. doi:10.3389/fgene.2021.685035
• https://pubmed.ncbi.nlm.nih.gov/27683825/ Martinez Lyons A, Ardissone A, Reyes A, et al. COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. J Med Genet. 2016;53(12):846-849. doi:10.1136/jmedgenet-2016-104194
• https://pubmed.ncbi.nlm.nih.gov/35603692/ Tang Y, Yu M, Zhang W, et al. A novel compound heterozygous mutation in the COA7 gene responsible for a Chinese patient with spinocerebellar ataxia with axonal neuropathy type 3. Clin Neuropathol. 2022;41(5):202-210. doi:10.5414/NP301457

Other links: https://rarediseases.info.nih.gov/diseases/9971/spinocerebellar-ataxia-autosomal-recessive-3

FlyBase paper(s) to curate with this term: FBrf0238967

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Thank you very much for your term request for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, @vjenkinsFB.

We'll review it, get back to you soon and update the DO for the next release.

[allenbaron]

This is part of a small phenotypic series (PS607250) for which DO only has the first disease (DOID:0090115). We will add the two missing members of the series.