Cystic kidney disease
Gene: GLAEnsemblGeneIds (GRCh38): ENSG00000102393
EnsemblGeneIds (GRCh37): ENSG00000102393
OMIM: 300644, Gene2Phenotype
GLA is in 25 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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
Eleanor Williams (Genomics England Curator)
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
John Sayer (Newcastle University)
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
Miranda Durkie (Genetics)
Ellen Thomas (Genomics England Curator)
Comment on list classification: Fabry disease.Created: 10 May 2016, 10:16 a.m.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- NHS GMS
- Expert Review Green
- Expert
- Phenotypes
-
- Fabry disease, OMIM:301500
- Fabry disease, MONDO:0010526
- Renal cyst, HP:0000107
- renal parapelvic cysts
- OMIM
- 300644
- Clinvar variants
- Variants in GLA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Unexplained kidney failure in young people
- Multiple monogenic benign skin tumours
- Dilated Cardiomyopathy and conduction defects
- Mucopolysaccharideosis, Gaucher, Fabry
- Likely inborn error of metabolism
- Hyperammonaemia
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Paediatric or syndromic cardiomyopathy
- Adult onset neurodegenerative disorder
- Progressive cardiac conduction disease
- Proteinuric renal disease
- Pain syndromes
- Hypertrophic cardiomyopathy
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Familial cerebral small vessel disease
- Paroxysmal central nervous system disorders
- Hereditary neuropathy
- Lysosomal storage disorder
- Fetal anomalies
- Fabry disease
History Filter Activity
Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_22_rating was removed from gene: GLA. Tag Q3_22_NHS_review was removed from gene: GLA.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)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)
Set mode of inheritance
Eleanor Williams (Genomics England Curator)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)
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: GLA were changed from to Fabry disease, OMIM:301500; Fabry disease, MONDO:0010526; Renal cyst, HP:0000107; renal parapelvic cysts
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: GLA were set to
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: gla has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_22_rating tag was added to gene: GLA. Tag Q3_22_NHS_review tag was added to gene: GLA.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)GLA was added to Cystic kidney diseasepanel. Sources: Expert