Interstitial Lung Disease

Gene: GDNF

Red List (low evidence)

Agree.
Amiel et al. (1998) identified a heterozygous 277C>T transition in exon 2 of the GDNF gene, resulting in a change of highly conserved arginine into a tryptophan (R93W), in a male patient with congenital central hypoventilation syndrome (CCHS) and growth hormone deficiency. This variant was inherited from an unaffected mother. Amiel et al. (2003) later showed that this patient also carried a polyalanine expansion in the PHOX2B gene. Sasaki et al. (2003) also reported a GDNF variant in a patient with CCHS in the presence of an additional variant in PHOX2B. There has been no reported CCHS case where GDNF is the only identified variant this gene.
PMID: 9497256; 12640453; 14566559.

Created: 6 Nov 2021, 5:14 a.m. | Last Modified: 6 Nov 2021, 5:14 a.m.

Panel Version: 0.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Red List (low evidence)

Cannot find reports establishing gene-disease association.

Created: 30 Oct 2020, 10:46 p.m. | Last Modified: 30 Oct 2020, 10:46 p.m.

Panel Version: 0.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Central hypoventilation syndrome, MIM# 209880