New Terms Request: Hereditary spastic paraplegia 90A --AND-- hereditary spastic paraplegia 90B

[vjenkinsFB]

I'd like to request terms for hereditary spastic paraplegia 90A --and-- hereditary spastic paraplegia 90B. These disorders are based in the same gene, but 90A is caused by dominant mutations, and 90B is caused by homozygous mutations. See OMIM and ClinVar for details.

OMIM: https://www.omim.org/entry/620416 90A; https://www.omim.org/entry/620417 90B

Potential definition for 90A: Hereditary spastic paraplegia 90A has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13. Potential definition for 90B: Hereditary spastic paraplegia 90B has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.

Potential parent term: hereditary spastic paraplegia

Synonyms for 90A: SPTSSA-related condition; Spastic paraplegia 90A, autosomal dominant; SPG90A Synonyms for 90B: SPTSSA-related condition; Spastic paraplegia 90B, autosomal recessive; SPG90B

ClinVar search term: SPTSSA[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/CN372196/ Spastic paraplegia 90A, autosomal dominant; https://www.ncbi.nlm.nih.gov/medgen/1049296 Spastic paraplegia 90B, autosomal recessive (not correctly linked from ClinVar but is findable by searching by gene in MedGen.

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:20361

FlyBase paper(s) to curate with this term: FBrf0256324

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

[allenbaron]

We'll review these and work to get them into the July release. Thanks!

[allenbaron]

90A (DOID:0070459) and 90B (DOID:0070460) have been added along with other missing OMIM subtypes (975ad0480667f6229cc0554bfec0eb4a093bc0f5) and will be in the next release.