Activity
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| Skeletal dysplasia v9.33 | FAM210A | Achchuthan Shanmugasundram Classified gene: FAM210A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.33 | FAM210A | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.33 | FAM210A | Achchuthan Shanmugasundram Gene: fam210a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.32 | FAM210A | Achchuthan Shanmugasundram commented on gene: FAM210A: The 'new-gene-name' tag has been added as the official HGNC gene symbol is MIMS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.32 | FAM210A | Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: FAM210A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.32 | FAM210A |
Achchuthan Shanmugasundram gene: FAM210A was added gene: FAM210A was added to Skeletal dysplasia. Sources: Literature Q3_26_promote_green tags were added to gene: FAM210A. Mode of inheritance for gene: FAM210A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM210A were set to 42410297 Phenotypes for gene: FAM210A were set to Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia, OMIM:621650 Review for gene: FAM210A was set to GREEN Added comment: 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 |
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