New Term Request: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

[vjenkinsFB]

I'd like to request a term for neurodevelopmental disorder with cerebellar atrophy and motor dysfunction.

OMIM: https://omim.org/entry/619333

Potential definition: Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.

Potential parent term: central nervous system disease

Synonyms: NEDCAM; GEMIN5-Related Disorder

ClinVar search term: GEMIN5[gene] AND ( ( ("clinsig pathogenic"[Properties] or "clinsig pathogenic low penetrance"[Properties] or "clinsig established risk allele"[Properties]) OR ("clinsig vus"[Properties] or "clinsig uncertain risk allele"[Properties]) OR ("clinsig likely pathogenic"[Properties] or "clinsig likely pathogenic low penetrance"[Properties] or "clinsig likely risk allele"[Properties]) OR ("clinsig has conflicts"[Properties]) ) AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties]))

MedGen page(s) pointed to by the above: https://www.ncbi.nlm.nih.gov/medgen/C5543427/ Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

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

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/20043

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/35393353/ Francisco-Velilla R, Embarc-Buh A, Del Caño-Ochoa F, et al. Functional and structural deficiencies of Gemin5 variants associated with neurological disorders. Life Sci Alliance. 2022;5(7):e202201403. Published 2022 Apr 7. doi:10.26508/lsa.202201403
• https://pubmed.ncbi.nlm.nih.gov/35295849/ Rajan DS, Kour S, Fortuna TR, et al. Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Front Cell Dev Biol. 2022;10:783762. Published 2022 Feb 28. doi:10.3389/fcell.2022.783762
• https://pubmed.ncbi.nlm.nih.gov/34569062/ Saida K, Tamaoki J, Sasaki M, et al. Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy. Clin Genet. 2021;100(6):722-730. doi:10.1111/cge.14066

Other links: http://gemin5.org/ patient advocacy site

FlyBase paper(s) to curate with this term: FBrf0249095

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

[lschriml]

Thank you for the new term, we will add it as a child of : autosomal recessive intellectual developmental disorder (DOID:0060308)

Cheers, Lynn

[allenbaron]

This disease will be included in the next release as DOID:0070443.