New Term Request: Nicolaides-Baraitser syndrome

[vjenkinsFB]

I'd like to request a term for Nicolaides-Baraitser syndrome.

OMIM: https://omim.org/entry/601358. The gene is also associated with blepharophimosis-impaired intellectual development syndrome (https://omim.org/entry/619293), which is not in DO either.

Potential definition: Nicolaides-Baraitser syndrome has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24.

Potential parent term: syndromic intellectual disability

Synonyms: NCBRS, SMARCA2-related BAFopathy

ClinVar search term: SMARCA2 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 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/C1303073/ Nicolaides-Baraitser syndrome, https://www.ncbi.nlm.nih.gov/medgen/CN203134/ blepharophimosis - intellectual disability syndrome

GeneReviews page: https://www.ncbi.nlm.nih.gov/books/NBK321516/

MalaCards page: https://www.malacards.org/card/nicolaides_baraitser_syndrome_2

OrphaNet: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11098#gene

Citations other than those in the OMIM entry:

• https://pubmed.ncbi.nlm.nih.gov/34521483/ Foley R, Duignan S, McArdle L, Betts DR, Green A, McMahon CJ. Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and SMARCA2 gene deletion. Cardiol Young. 2022;32(5):821-823. doi:10.1017/S1047951121003826
• https://pubmed.ncbi.nlm.nih.gov/25169058/ Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet. 2014;166C(3):302-314. doi:10.1002/ajmg.c.31409
• https://pubmed.ncbi.nlm.nih.gov/35762114/ Simmers R, Goodwin A, Al Saif H, Couser N. Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome. Ophthalmic Genet. 2022;43(5):699-702. doi:10.1080/13816810.2022.2089358
• https://pubmed.ncbi.nlm.nih.gov/27099726/ Ejaz R, Babul-Hirji R, Chitayat D. The evolving features of Nicolaides-Baraitser syndrome - a clinical report of a 20-year follow-up. Clin Case Rep. 2016;4(4):351-355. Published 2016 Feb 28. doi:10.1002/ccr3.425
• https://pubmed.ncbi.nlm.nih.gov/27286846/ Pretegiani E, Mari F, Renieri A, Penco S, Dotti MT. Nicolaides-Baraitser syndrome: defining a phenotype. J Neurol. 2016;263(8):1659-1660. doi:10.1007/s00415-016-8194-0
• https://pubmed.ncbi.nlm.nih.gov/28635076/ Al-Tamimi B, Abela S, Jeremiah HG, Evans RD. Supernumeraries in Nicolaides-Baraitser Syndrome. Int J Paediatr Dent. 2017;27(6):583-587. doi:10.1111/ipd.12309

FlyBase item(s) to curate with this term: FBhh0001096

My contact info: [email protected] (FlyBase), 0000-0002-1567-7626. Thank you!

[csbjohnson]

Thank you very much for your term request for Nicolaides-Baraitser syndrome, @vjenkinsFB.

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

[vjenkinsFB]

New paper that I would like to curate using this disease: FBrf0250653

[allenbaron]

@vjenkinsFB apologies for the delay. We'll work to get as many issues done for the next release as possible. Feel free to keep adding them.

[vjenkinsFB]

@allenbaron no worries. I just add these so I can search the board if I forget whether I made a ticket for a particular paper.

[lschriml]

added: Nicolaides-Baraitser syndrome. DOID:0081441 blepharophimosis-impaired intellectual development syndrome, DOID:0081442