Skeletal dysplasia

Gene: FAM210A

Green List (high evidence)

Comment on list classification: There are four unrelated families reported with skeletal dysplasia and biallelic FAM210A variants. Hence, this gene can be promoted to green rating in the next GMS update.

Created: 24 Jul 2026, 9:29 p.m. | Last Modified: 24 Jul 2026, 9:29 p.m.

Panel Version: 9.33

The 'new-gene-name' tag has been added as the official HGNC gene symbol is MIMS1.

Created: 24 Jul 2026, 9:28 p.m. | Last Modified: 24 Jul 2026, 9:28 p.m.

Panel Version: 9.32

PMID:42410297 (2026) reported five patients from four unrelated families with skeletal dysplasia phenotype characterised by spondyloepimetaphyseal dysplasiachondrodysplasia with short stature (all patents), tracheal stenosis (all patients), conical teeth and/or early tooth decay, and sparse hair suggestive of ectodermal dysplasia (in three unrelated patients).

They were identified with biallelic variants in FAM210A gene (new gene name - MIMS1) - homozygous missense variants in three families and compound heterozygous nonsense variants in the first family with two siblings.

This gene has been associated with relevant phenotype in OMIM (MIM #621650, last accessed 24 July 2026), but not in Gene2Phenotype or ClinGen.
Sources: Literature

Created: 24 Jul 2026, 9:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia, OMIM:621650

Publications

• 42410297