Cystic kidney disease
Gene: GLA
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:25 p.m. | Last Modified: 30 Jan 2023, 4:25 p.m.
Panel Version: 3.4
Comment on mode of inheritance: There is evidence that heterozyous females are not always asymptomatic carriers, with renal disease being reported as part of the phenotype in several cases (PMID: 17224688 Wang et al 2007, PMID: 29770213 McCloskey et al 2018).Created: 31 Jul 2022, 9:26 p.m. | Last Modified: 31 Jul 2022, 9:26 p.m.
Panel Version: 2.53
Comment on list classification: Promoting from red to amber but with a recommendation for a green rating following GMS review. More than 3 cases reported with renal parapelvic cysts.Created: 31 Jul 2022, 10:23 a.m. | Last Modified: 31 Jul 2022, 10:23 a.m.
Panel Version: 2.50
Associated with Fabry disease #301500 (XL) in OMIM.
As reviewer John Sayer states, Pisani et al (2018) (PMID: 28371803) looked at the prevalence parapelvic cysts in a large cohort of patients (n=173) from Italy with genetically proven Fabry Disease and matched control subjects (comparable age and renal function). GLA activity was reported as absent (65 patients), residual (94 patients) and not reported (14). 56 distinct GLA gene variants were represented. Parapelvic cysts were reported in 50 (28.9%) of the Fabry Disease patients but only 2 (1.1%) of the controls P<0.001 . There was no significant difference in the number of cortical cysts reported between the FD and control groups (26 patients (15%) vs 21 (12.1%).Created: 30 Jul 2022, 5:17 p.m. | Last Modified: 30 Jul 2022, 5:17 p.m.
Panel Version: 2.49
PMID 28371803: Parapelvic cysts were detected in 28.9% of Fabry D subjects and in only 1.1% of control subjects (P < 0.001).
This and several other studies suggests that the presence of renal Parapelvic cysts should alert physicians to consider the diagnosis of Fabry Disease.Created: 13 Jun 2022, 8:40 a.m. | Last Modified: 13 Jun 2022, 8:40 a.m.
Panel Version: 2.45
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
renal parapelvic cysts; renal cortical cysts
Publications
Comment on list classification: Fabry disease.Created: 10 May 2016, 10:16 a.m.
Tag Q3_22_rating was removed from gene: GLA. Tag Q3_22_NHS_review was removed from gene: GLA.
Source Expert Review Green was added to GLA. Source NHS GMS was added to GLA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mode of inheritance for gene: GLA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: GLA were changed from to Fabry disease, OMIM:301500; Fabry disease, MONDO:0010526; Renal cyst, HP:0000107; renal parapelvic cysts
Publications for gene: GLA were set to
Gene: gla has been classified as Amber List (Moderate Evidence).
Tag Q3_22_rating tag was added to gene: GLA. Tag Q3_22_NHS_review tag was added to gene: GLA.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
GLA was added to Cystic kidney diseasepanel. Sources: Expert