Skeletal dysplasia

Gene: LONP1

Green List (high evidence)

PMID:40931319 (2026) reported 16 individuals with 16 different variants in LONP1 gene, of which 11 individuals are new patients with neurodevelopmental features without congenital diaphragmatic hernia (CDH) or classic cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS features), and five are previously reported cases. Seven of these patients are identified with heterozygous variants, while the rest are identified with either homozygous or compound heterozygous variants. None of the patients with heterozygous variants had mild epiphyseal hypoplasia that was seen in some patients with biallelic variants.

Biallelic variants are associated with relevant phenotypes in OMIM (MIM #600373, last accessed 23 July 2026) and in Gene2Phenotype ('strong' rating on DD, Eye and Skeletal panels). Monoallelic variants are not yet associated with relevant phenotypes in OMIM.

Created: 14 Aug 2026, 2:49 p.m. | Last Modified: 14 Aug 2026, 2:49 p.m.

Panel Version: 10.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS syndrome, OMIM:600373; CODAS syndrome, MONDO:0010879

Publications

• 40931319

Green List (high evidence)

spondylo-epi-(meta)-physeal dysplasias gp of SD >3 cases; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LONP1; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported

Created: 29 Jul 2016, 10:11 a.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CODAS (Cerebral, Ocular, Dental, Auricular and Skeletal anomalies) syndrome 600373

Variants in this GENE are reported as part of current diagnostic practice