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Unexplained young onset end-stage renal disease v3.34 WDR72 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/) and 'R256 Nephrocalcinosis or nephrolithiasis'(https://panelapp.genomicsengland.co.uk/panels/149/gene/WDR72/), this gene should be promoted to green rating in this panel as well.; to: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/) and 'R256 Nephrocalcinosis or nephrolithiasis' (https://panelapp.genomicsengland.co.uk/panels/149/gene/WDR72/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.34 WDR72 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/), this gene should be promoted to green rating in this panel as well.; to: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/) and 'R256 Nephrocalcinosis or nephrolithiasis'(https://panelapp.genomicsengland.co.uk/panels/149/gene/WDR72/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.34 RMND1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/RMND1/), this gene should be promoted to green rating in this panel as well.; to: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/RMND1/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.34 RMND1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/RMND1/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.32 WDR72 Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'R198 Renal tubulopathies' panel (https://panelapp.genomicsengland.co.uk/panels/292/gene/WDR72/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.29 SEC63 Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'Cystic kidney disease' panel (https://panelapp.genomicsengland.co.uk/panels/283/gene/SEC63/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.23 PRKCSH Achchuthan Shanmugasundram Added comment: Comment on list classification: As this gene has been tagged for promotion to green rating in 'Cystic kidney disease' panel (https://panelapp.genomicsengland.co.uk/panels/283/gene/PRKCSH/), this gene should be promoted to green rating in this panel as well.
Unexplained young onset end-stage renal disease v3.21 PDSS2 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green in 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/PDSS2/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/PDSS2/).
Unexplained young onset end-stage renal disease v3.21 CD151 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).
Unexplained young onset end-stage renal disease v3.21 FN1 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/FN1/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/FN1/).
Unexplained young onset end-stage renal disease v3.21 FN1 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green in 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/FN1/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/FN1/).
Unexplained young onset end-stage renal disease v3.21 CD151 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green on 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R195 Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).
Unexplained young onset end-stage renal disease v3.21 APRT Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it is already green on 'Nephrocalcinosis or nephrolithiasis' panel (https://panelapp.genomicsengland.co.uk/panels/149/gene/APRT/).; to: This gene should be promoted to green rating in 'R257 Unexplained young onset end-stage renal disease' panel as it is already green on 'R256 Nephrocalcinosis or nephrolithiasis' panel (https://panelapp.genomicsengland.co.uk/panels/149/gene/APRT/).
Unexplained young onset end-stage renal disease v3.12 CD151 Achchuthan Shanmugasundram changed review comment from: This gene should be promoted to green rating in this panel as it has already been rated green on 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/); to: This gene should be promoted to green rating in this panel as it has already been rated green on 'Proteinuric renal disease' panel (https://panelapp.genomicsengland.co.uk/panels/106/gene/CD151/).
Unexplained young onset end-stage renal disease v1.9 VIPAS39 Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain, Genomics England Clinical Team. PMID:20190753 (Cullinane et al., 2010) identify biallelic (homozygous or compound het) variants in 7 probands from consanguineous families with ARC (MIM:613404) from various ethnic backgrounds (Turkish, Croation, Israeli Arab, Italian). Variants include Q179X, T250ArgfsX279, R220X, Q291X, M1R. The paper does not further discuss the kidney phenotype but the other ARC syndrome gene, VPS33B, is already green on this panel.; to: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain, Genomics England Clinical Team. PMID:20190753 (Cullinane et al., 2010) identify biallelic (homozygous or compound het) variants in 7 probands from consanguineous families with ARC (MIM:613404) from various ethnic backgrounds (Turkish, Croation, Israeli Arab, Italian). Variants include Q179X, T250ArgfsX279, R220X, Q291X, M1R. The paper does not further discuss the kidney phenotype but the other ARC syndrome gene, VPS33B, is already green on this panel. This rating should be reviewed by GLHs at the date of next GMS panel update.
Unexplained young onset end-stage renal disease v1.9 VIPAS39 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following advice from Helen Brittain, Genomics England Clinical Team. PMID:20190753 (Cullinane et al., 2010) identify biallelic (homozygous or compound het) variants in 7 probands from consanguineous families with ARC (MIM:613404) from various ethnic backgrounds (Turkish, Croation, Israeli Arab, Italian). Variants include Q179X, T250ArgfsX279, R220X, Q291X, M1R. The paper does not further discuss the kidney phenotype but the other ARC syndrome gene, VPS33B, is already green on this panel.
Unexplained young onset end-stage renal disease v0.162 TCTN3 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.158 TMEM231 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.157 TMEM138 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.153 TMEM216 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.146 TMEM237 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.142 TTC8 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.138 WDPCP Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.135 TCTN1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.132 SDCCAG8 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.128 PMM2 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.124 NEK8 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.123 MKS1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.119 KIF7 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.116 INPP5E Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.113 CEP41 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.110 CEP290 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.107 CC2D2A Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.103 C5orf42 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.99 BBS9 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.95 BBS5 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.91 BBS4 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.87 BBS2 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.83 BBS12 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.79 BBS10 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.75 BBS1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.71 ARL6 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.67 ARL13B Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.62 ALMS1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.57 AHI1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as green on the renal ciliopathies panel https://panelapp.genomicsengland.co.uk/panels/725/
Unexplained young onset end-stage renal disease v0.54 APRT Eleanor Williams gene: APRT was added
gene: APRT was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review
Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APRT were set to 30355577; 30106368; 25307253; 22212387
Phenotypes for gene: APRT were set to nterstitial nephritis; chronic kidney disease; end stage renal disease; nephrolithiaisis; Adenine phosphoribosyltransferase deficiency 614723
Review for gene: APRT was set to AMBER
Added comment: This gene was added to the 100,000 genomes project ' Unexplained kidney failure in young people' panel at the suggestion of external reviewer John Sayer.

Associated with Adenine phosphoribosyltransferase deficiency (#614723)(AR) in OMIM with renal failure and Urolithiasis listed as clinical features. APRT is green on the Nephrocalcinosis or nephrolithiasis panel (https://panelapp.genomicsengland.co.uk/panels/149/gene/APRT/). > 3 cases reported in OMIM where variants in APRT are associated with Adenine phosphoribosyltransferase deficiency and a renal phenotype.

Homozygous and compound heterozygous variants in APRT are associated with Adenine phosphoribosyltransferase deficiency and can lead to end-stage kidney disease if untreated. End-stage kidney disease can present under 50 years.
Sources: Expert Review
Unexplained young onset end-stage renal disease v0.38 SLC7A9 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Nephrocalcinosis or nephrolithiasis panel. Can cause renal failure.
Unexplained young onset end-stage renal disease v0.37 SLC7A9 Eleanor Williams gene: SLC7A9 was added
gene: SLC7A9 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SLC7A9 were set to Cystinuria 220100
Added comment: Adding gene at recommendation of Genomics England clinical team.
Sources: Other
Unexplained young onset end-stage renal disease v0.36 SEC61A1 Eleanor Williams Added comment: Comment on list classification: Changing rating to green. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper (1 case) and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076
Unexplained young onset end-stage renal disease v0.35 SEC61A1 Eleanor Williams changed review comment from: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076; to: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper (1 case) and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076
Unexplained young onset end-stage renal disease v0.34 SEC61A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. Added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and amber on the Tubulointerstitial kidney disease panel. Two cases reported in Bolar et al. (2016) PMID: 27392076
Unexplained young onset end-stage renal disease v0.33 SEC61A1 Eleanor Williams gene: SEC61A1 was added
gene: SEC61A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SEC61A1 were set to 27392076
Phenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4 617056
Added comment: Adding gene to panel at suggestion of Genomics England clinical team
Sources: Other
Unexplained young onset end-stage renal disease v0.32 IQCB1 Eleanor Williams Added comment: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Renal ciliopathies panel. Should be green if NPHP1 is green.
Unexplained young onset end-stage renal disease v0.29 SLC3A1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Nephrocalcinosis or nephrolithiasis panel. Can cause renal failure.
Unexplained young onset end-stage renal disease v0.28 SLC3A1 Eleanor Williams gene: SLC3A1 was added
gene: SLC3A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SLC3A1 were set to Cystinuria 220100
Added comment: Adding gene to the panel on recommendation of Genomics England clinical team
Sources: Other
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams changed review comment from: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 paper and green on Renal ciliopathies and Proteinuric renal disease panels.; to: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 (PMID: 30586318) paper and green on Renal ciliopathies and Proteinuric renal disease panels.
Unexplained young onset end-stage renal disease v0.26 CRB2 Eleanor Williams Added comment: Comment on list classification: Gene added at recommendation of Genomics England clinical team. Identified in Groopman et al 2019 paper and green on Renal ciliopathies and Proteinuric renal disease panels.
Unexplained young onset end-stage renal disease v0.24 CRB2 Eleanor Williams gene: CRB2 was added
gene: CRB2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557780
Added comment: Gene suggested for addition to this panel by Genomics England clinical team.
Sources: Other
Unexplained young onset end-stage renal disease v0.23 GLA Eleanor Williams Phenotypes for gene: GLA were changed from to Fabry disease, 301500; renal insufficiency; renal failure
Unexplained young onset end-stage renal disease v0.22 GLA Eleanor Williams Publications for gene: GLA were set to
Unexplained young onset end-stage renal disease v0.21 GLA Eleanor Williams Classified gene: GLA as Green List (high evidence)
Unexplained young onset end-stage renal disease v0.21 GLA Eleanor Williams Added comment: Comment on list classification: Upgrading from red to green on this panel on advice from Genomics England clinical team. Can present with renal disease as the main feature.
Unexplained young onset end-stage renal disease v0.21 GLA Eleanor Williams Gene: gla has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.16 GLA Eleanor Williams commented on gene: GLA: GLA is associated with Fabry disease (#301500) in OMIM


PMID: 28006774 - Turkmen et al 2016 - 3 out of 313 chronic kidney disease patients not receiving renal replacement therapy (0.95%) were diagnosed of Fabry disease by GLA gene mutation analysis. The age of the patients and their family members with Fabry disease ( total number =11) was 41.3 +/- 14.5.

PMID: 15861341 - Cybulla et al 2005 - describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry disease was difficult and not established until a second family member developed renal abnormalities. The index patient was 35 years old. Analysis of the alpha-GLA gene showed the mutation E66K. The mutation also was found in another asymptomatic 30-year-old brother who also had chronic renal failure and proteinuria, but normal extrarenal findings. Mutation carriers also included the mother, a sister (both without abnormalities), and a nephew (with episodic pains in his feet).

PMID: 15100373 - Kotanko et al 2004 - Nationwide screening of Anderson-Fabry disease among dialysis patients in Austria. Individuals with decreased leukocyte AGAL activity were subjected to mutation testing in the GLA gene, Genetic testing revealed mutations associated with Fabry disease in all four men with severely decreased AGAL activity resulting in a prevalence of 0.161% for the entire study population. Age at start of dialysis ranged from 27 to 53.
Unexplained young onset end-stage renal disease v0.13 GLA Daniel Gale reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28006774, 15861341, 15100373; Phenotypes: renal insufficiency, renal failure, Fabry disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Unexplained young onset end-stage renal disease v0.2 GLA Eleanor Williams reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 GLA Eleanor Williams gene: GLA was added
gene: GLA was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)