New Term Request: Ataxia-telangiectasia-like disorder 1

[vjenkinsFB]

I'd like to request a term for ataxia-telangiectasia-like disorder 1. Clinvar shows people both using and not using the 1 at the end. OMIM also has ATLD2, associated w/PCNA (https://omim.org/entry/615919), so I think you’d be better off making this ATLD1 in case you want to do that other one later. There has also been some confusion about this gene being renamed from MRE11A, so that doesn’t help.

OMIM: https://omim.org/entry/604391

Potential definition: Ataxia-telangiectasia-like disorder 1 has_material_basis_in homozygous or compound heterozygous mutation in the MRE11 gene on chromosome 11q21.

Potential parent term: cerebellar ataxia

Synonyms: ATLD1, ATLD

ClinVar search term: MRE11 AND ( ( ("clinsig pathogenic"[Properties] or "clinsig pathogenic low penetrance"[Properties] or "clinsig established risk allele"[Properties]) OR ("clinsig likely pathogenic"[Properties] or "clinsig likely pathogenic low penetrance"[Properties] or "clinsig likely risk allele"[Properties]) OR ("clinsig vus"[Properties] or "clinsig uncertain 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: Ataxia-telangiectasia-like disorder 1 https://www.ncbi.nlm.nih.gov/medgen/C4012790/; Ataxia-telangiectasia-like disorder https://www.ncbi.nlm.nih.gov/medgen/C1858391/; multiple links to Hereditary cancer-predisposing syndrome https://www.ncbi.nlm.nih.gov/medgen/C0027672/ despite that being associated with a different gene, not sure what is up with that.

Gene Reviews: only mentioned in differential diagnosis for other diseases

MalaCards page: https://www.malacards.org/card/ataxia_telangiectasia_like_disorder_1

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7230

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/33531947/ Mahale RR, Reddy N, Mathuranth P, Mailankody P, Padmanabha H, Retnaswami CS. A Rare Case of Ataxia-Telangiectasia-Like Disorder With MRE11 Mutation. J Pediatr Neurosci. 2020;15(3):283-285. doi:10.4103/jpn.JPN_152_19
• https://pubmed.ncbi.nlm.nih.gov/30584599/ Sedghi M, Salari M, Moslemi AR, et al. Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant. Neurol Genet. 2018;4(6):e295. Published 2018 Dec 3. doi:10.1212/NXG.0000000000000295

FlyBase paper(s) to curate with this term: FBrf0257088

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

[lschriml]

Thank you Victoria !! I have added both disease terms. Cheers, Lynn