Likely inborn error of metabolism

Gene: GDAP1

Green List (high evidence)

Comment on list classification: GDAP1 is an integral membrane protein of the outer mitochondrial membrane. Mutations in GDAP1 disrupt mitochondrial dynamics, affecting function of myelinated peripheral nerves (PMID: 16172208, Niemann et al., 2005). It has been agreed that genes that lead to mitochondrial dysfunction should be included on this panel.
There are several other genes associated with Charcot-Marie-Tooth disease included on the Likely inborn error of metabolism panel. Therefore, the Green rating should be maintained for this gene.

Created: 27 Oct 2025, 2:51 p.m. | Last Modified: 27 Oct 2025, 2:51 p.m.

Panel Version: 8.71

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706; Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340; Charcot-Marie-Tooth disease, type 4A, OMIM:214400

Publications

• 16172208

Red List (low evidence)

GDAP1 is associated with CMT, but not metabolic disorder or metabolic disorder-like presentation

Created: 10 Oct 2024, 5:23 a.m. | Last Modified: 10 Oct 2024, 5:23 a.m.

Panel Version: 6.19

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment on mode of inheritance: Provided by reviewer. Confirmed on OMIM - Charcot-Marie-Tooth disease, axonal, type 2K is both AD and AR.

Created: 15 Feb 2016, 11:20 a.m.

Comment on list classification: Is rated green by four other reviewers on the Charcot-Marie Tooth panel.

Created: 15 Feb 2016, 11:19 a.m.

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal