1. Panels
  2. Unexplained young onset end-stage renal disease - additional genes
The latest signed off version for the GMS is v1.1. The current version, shown here, may differ from the signed-off version.

Unexplained young onset end-stage renal disease - additional genes (Version 1.4)

Level 2: Renal

Panel types: Component Of Super Panel, GMS signed-off
Latest signed off version: v1.1 (30 Apr 2025)
Previously signed off versions: v1.0
Description
This panel is a component of super panel 'Unexplained young onset end-stage renal disease'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).  

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).  

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.  

This panel is intended to capture genes not present with a Green rating on the other constituent panels of the super panel 'Unexplained young onset end-stage renal disease'.
Panel Activity

18 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Bill Newman (Manchester Centre for Genomic Medicine)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • John Sayer (Newcastle University)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Moin Saleem (University of Bristol)

    Group: GeCIP domain
    Workplace: Research lab

  • Helen Stuart (University of Manchester)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Adrian Woolf (Professor of Paediatric Scicence, Univerisity of Manchester)

    Group: Other
    Workplace: Research lab

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Detlef Bockenhauer (GOSH-UCL)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Yu Leng Phua (Icahn School of Medicine at Mount Sinai and ClinGen)

    Group: Other
    Workplace: Other diagnostic lab

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

61 Entities

61 reviewed, 36 green

List Entity Reviews Mode of inheritance Details
61 Entitiess
Green List (high evidence)
ACE
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal tubular dysgenesis, OMIM:267430
Tags
Green List (high evidence)
ACTG2
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431
  • Visceral myopathy 1, OMIM:155310
  • Berdon syndrome
Tags
Green List (high evidence)
AGT
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal tubular dysgenesis, OMIM:267430
Tags
Green List (high evidence)
AGTR1
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal tubular dysgenesis, OMIM:267430
Tags
Green List (high evidence)
ANOS1
8 reviews
3 green 1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), OMIM:308700
Tags
Green List (high evidence)
ARMC9
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 30, OMIM:617622
Tags
Green List (high evidence)
BNC2
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Lower urinary tract obstruction, congenital, OMIM:618612
Tags
Green List (high evidence)
C3
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • C3 deficiency, OMIM:613779
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, OMIM:612925
Tags
Green List (high evidence)
CHD7
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • CHARGE syndrome, OMIM:214800
Tags
Green List (high evidence)
CHRM3
7 reviews
3 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Prune belly syndrome, OMIM:100100
  • Megacystis
  • Urinary Bladder Disease
Tags
Green List (high evidence)
DSTYK
7 reviews
3 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Congenital anomalies of kidney and urinary tract 1, OMIM:610805
Tags
Green List (high evidence)
EYA1
6 reviews
4 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650
Tags
Green List (high evidence)
FAN1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Interstitial nephritis, karyomegalic, OMIM:614817
  • karyomegalic interstitial nephritis, MONDO:0013898
  • chronic kidney disease
Tags
Green List (high evidence)
FRAS1
7 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fraser syndrome 1, OMIM:219000
Tags
Green List (high evidence)
FREM1
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bifid nose with or without anorectal and renal anomalies, OMIM:608980
Tags
Green List (high evidence)
FREM2
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fraser syndrome 2, OMIM:617666
Tags
Green List (high evidence)
GATA3
5 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255
Tags
Green List (high evidence)
GLI3
5 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pallister-Hall syndrome, OMIM:146510
Tags
Green List (high evidence)
GRIP1
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fraser syndrome 3, OMIM:617667
Tags
Green List (high evidence)
HAAO
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660
Tags
Green List (high evidence)
HPSE2
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Urofacial syndrome 1, OMIM:236730
  • Congenital bladder disease: dyssynergic, high pressure bladder
Tags
Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072
Tags
Green List (high evidence)
ITGA8
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia/aplasia 1, OMIM:191830
Tags
Green List (high evidence)
KYNU
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661
Tags
Green List (high evidence)
LRIG2
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Urofacial syndrome 2, OMIM:615112
  • Congenital bladder disease: dyssynergic, high pressure bladder
Tags
Green List (high evidence)
NOS1AP
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 22, OMIM:619155
Tags
Green List (high evidence)
PBX1
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641
Tags
Green List (high evidence)
PRDM15
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • steroid-resistant nephrotic syndrome, MONDO:0044765
Tags
  • gene-checked
Green List (high evidence)
RET
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Hirschsprung disease, susceptibility to, 1}, OMIM:142623
  • Multiple endocrine neoplasia IIA, OMIM:171400
  • Multiple endocrine neoplasia IIB, OMIM:162300
  • Pheochromocytoma, OMIM:171300
Tags
Green List (high evidence)
RMND1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 11, OMIM:614922
Tags
Green List (high evidence)
RRM2B
6 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075
  • Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, OMIM:268315
Tags
Green List (high evidence)
SALL1
6 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Townes-Brocks branchiootorenal-like syndrome, OMIM:107480
  • Townes-Brocks syndrome 1, OMIM:107480
Tags
Green List (high evidence)
SIX5
7 reviews
3 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome 2, OMIM:610896
Tags
  • disputed
  • Q3_25_demote_red
  • Q3_25_expert_review
Green List (high evidence)
TBX18
7 reviews
3 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Congenital anomalies of kidney and urinary tract 2, OMIM:143400
Tags
Green List (high evidence)
TRAP1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
  • VATER/VACTERL ASSOCIATION, OMIM:192350
Tags
  • gene-checked
Green List (high evidence)
WDR72
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • NHS GMS
Phenotypes
  • distal renal tubular acidosis, MONDO:0015827
  • Amelogenesis imperfecta, type IIA3, OMIM:613211
  • amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
Tags
Red List (low evidence)
ACTA2
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Smooth muscle dysfunction syndrome, OMIM:613834
Tags
Red List (low evidence)
BICC1
5 reviews
4 red 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to}, OMIM:601331
Tags
Red List (low evidence)
BMP4
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • Microphthalmia, syndromic 6, OMIM:607932
Tags
Red List (low evidence)
CHD1L
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • congenital anomaly of kidney and urinary tract, MONDO:0019719
Tags
Red List (low evidence)
COX10
4 reviews
3 red 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
Tags
Red List (low evidence)
DACT1
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Townes-Brocks syndrome 2, OMIM:617466
Tags
Red List (low evidence)
DLG3
3 reviews
1 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
FOXC1
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
FOXC2
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
GDNF
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
GREM1
4 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
HCN3
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
KIT
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
MYH11
4 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351
Tags
Red List (low evidence)
ROBO2
6 reviews
4 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Vesicoureteral reflux 2, OMIM:610878
Tags
Red List (low evidence)
SHH
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
SIX1
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Branchiootic syndrome 3, OMIM:608389
  • Deafness, autosomal dominant 23, OMIM:605192
Tags
Red List (low evidence)
SLIT2
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
SMARCA4
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
SOX17
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Phenotypes
  • Vesicoureteral reflux 3, OMIM:613674
Tags
Red List (low evidence)
SPRY1
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
TNXB
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
TSHZ3
4 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red List (low evidence)
UPK2
4 reviews
3 red 		Other
Sources
  • Expert Review Red
Tags
Red List (low evidence)
UPK3A
4 reviews
3 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Renal Adysplasia
Tags

Major version comments

  • 2024-10-30 12:26 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 1.0
    The content of this panel has been produced in agreement with the NHS Genomic Medicine Service. The panel was promoted to the first major version (1.0) following this.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

Download Version