Skeletal dysplasia

Gene: DCC

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 24 Feb 2025, 6:08 p.m. | Last Modified: 24 Feb 2025, 6:08 p.m.

Panel Version: 7.23

Comment on list classification: There are three unrelated families reported and hence this gene can be promoted to green rating in the next GMS update.

Created: 18 Jul 2024, 11:13 a.m. | Last Modified: 18 Jul 2024, 11:13 a.m.

Panel Version: 5.11

PMID:28250456 reported childhood-onset progressive scoliosis in three individuals from two different families identified with intragenic deletions. One family had a 7.7kb homozygous deletion (p.Pro11Thrfs*15), while the other family had 7bp homozygous deletion (p.Val263Alafs*36). The third family reported with a homozygous missense variant (p.Gln691Lys) did not present with scoliosis.

PMID:33141514 reported the identification of a novel homozygous frameshift variant (p.Asn800Lysfs*11) in three members of a Pakistani family and they presented with mild scoliosis at birth, which continued to increase progressively.

This gene has been associated with relevant phenotypes in OMIM (MIM #617542) and Gene2Phenotype ('definitive' rating on the DD panel).

Created: 18 Jul 2024, 11:11 a.m. | Last Modified: 18 Jul 2024, 1:47 p.m.

Panel Version: 5.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542

Publications

• 28250456
• 33141514

I don't know

Clinical features include childhood-onset progressive scoliosis. Two families reported, both with intragenic deletions.; Review on behalf of Tracy Lester

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542

Publications

• 28250456

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: DCC; Initial rating suggestion: Amber - ?SD, only 2 cases

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

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least two homozygous variants reported in two unrelated families, segregation demonstrated in one four generation family

Created: 15 Aug 2017, 1:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542

Publications

• 28250456