Description
This panel is a virtual panel that can form part of the analysis of a broader phenotype, where relevant, using genome or exome data in the NHS Genomic Medicine Service. This is not a primary panel for any GMS clinical indications.

The content of this panel is overseen by NHS Genomic Medicine Service governance.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

10 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

  • 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Detlef Bockenhauer (GOSH-UCL)

    Group: GeCIP domain
    Workplace: NHS clinical service

66 Entities

65 reviewed, 34 green

List Entity Reviews Mode of inheritance Details
66 Entitiess
Green Green List (high evidence)
ACE
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis
  • {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular
Tags
Green Green List (high evidence)
ACTG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
  • visceral myopathy
  • Berdon syndrome
Tags
Green Green List (high evidence)
AGT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis
  • {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGTR1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis
  • Hypertension, essential, 145500
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
ANOS1
5 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Kallman syndrome
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
Tags
Green Green List (high evidence)
BNC2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Posterior urethral valves
  • PUV
  • Congenital lower urinary-tract obstruction
Tags
Green Green List (high evidence)
CHD7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • CHARGE syndrome
Tags
Green Green List (high evidence)
DSTYK
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal hypodysplasia
  • ureteropelvic junction obstruction
  • vesicoureteric reflux
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
  • {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
Tags
Green Green List (high evidence)
EYA1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Anterior segment anomalies with or without cataract, 113650
  • Branchiootic syndrome 1, 602588
  • Otofaciocervical syndrome, 166780
  • Branchiootorenal Spectrum Disorders
Tags
Green Green List (high evidence)
FRAS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fraser syndrome
Tags
Green Green List (high evidence)
FREM1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bifid nose with or without anorectal and renal anomalies, 608980
Tags
Green Green List (high evidence)
FREM2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fraser syndrome
Tags
Green Green List (high evidence)
GATA3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Tags
Green Green List (high evidence)
GLI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pallister-Hall syndrome
Tags
Green Green List (high evidence)
GRIP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fraser syndrome
  • isolated CAKUT
Tags
Green Green List (high evidence)
HAAO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green Green List (high evidence)
HNF1B
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Renal cysts and diabetes syndrome
  • Diabetes mellitus, noninsulin-dependent
Tags
Green Green List (high evidence)
HPSE2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Urofacial Syndrome
  • Congenital bladder disease: dyssynergic, high pressure bladder
Tags
Green Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • RCAD syndrome
  • utero-vaginal atresia
  • Schizophrenia
  • 614527
  • delayed development, intellectual disability
  • Renal cysts and diabetes syndrome
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Chromosome 17q12 deletion syndrome
  • global developmental delay
Tags
Green Green List (high evidence)
ITGA8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
Tags
Green Green List (high evidence)
KYNU
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
  • ?Hydroxykynureninuria, 236800
  • multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green Green List (high evidence)
LRIG2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Urofacial syndrome
  • Congenital bladder disease: dyssynergic, high pressure bladder.
Tags
Green Green List (high evidence)
NPHP3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 3, 604387
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Meckel syndrome 7, 267010
  • Renal-Hepatic-Pancreatic Dysplasia
Tags
Green Green List (high evidence)
PAX2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Papillorenal syndrome, 120330
  • RENAL-COLOBOMA SYNDROME
  • Papillorenal syndrome
  • Glomerulosclerosis, focal segmental, 7
Tags
Green Green List (high evidence)
PBX1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CAKUT
Tags
  • deletions
Green Green List (high evidence)
REN
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis
  • [Hyperproreninemia]
Tags
Green Green List (high evidence)
RET
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Adysplasia
  • Multiple endocrine neoplasia IIA, 171400
  • Medullary thyroid carcinoma, 155240
  • Multiple endocrine neoplasia IIB, 162300
  • Central hypoventilation syndrome, congenital, 209880
  • Pheochromocytoma, 171300
  • Renal agenesis, 191830
  • {Hirschsprung disease, susceptibility to, 1}, 142623
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
RRM2B
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Tags
Green Green List (high evidence)
SALL1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Townes-Brocks syndrome, 107480
  • Townes-Brocks branchiootorenal-like syndrome, 107480
  • imperforate anus, ear abnormalities, thumb abnormalities
Tags
Green Green List (high evidence)
SIX5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Branchiootorenal syndrome 2, 610896
Tags
Green Green List (high evidence)
TBX18
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Tags
Green Green List (high evidence)
TRAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Tags
Green Green List (high evidence)
VPS33B
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
  • Arthrogryposis, renal dysfunction, and cholestasis
Tags
Red Red List (low evidence)
ACTA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Multi system smooth muscle dysfunction
Tags
Red Red List (low evidence)
BICC1
3 reviews
3 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to}, 601331
Tags
Red Red List (low evidence)
BMP4
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
BSND
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bartter syndrome, type 4a, 602522
  • Sensorineural deafness with mild renal dysfunction, 602522
Tags
Red Red List (low evidence)
CHD1L
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Renal or urinary tract malformation (CAKUT)
  • ORPHA93545
Tags
Red Red List (low evidence)
CHRM3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Prune Belly-Like Syndrome
  • Low pressure congenital megabladder
Tags
Red Red List (low evidence)
COX10
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
Tags
Red Red List (low evidence)
DACT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Other
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
Tags
Red Red List (low evidence)
DLG3
1 review
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC1
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC2
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
GDNF
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
GREM1
2 reviews
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
HCN3
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
KIT
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
MUC1
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Medullary cystic kidney disease 1, 174000
Tags
Red Red List (low evidence)
MYH11
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
Tags
Red Red List (low evidence)
NEK8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
Tags
Red Red List (low evidence)
OCRL
3 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
ROBO2
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Vesicoureteral reflux 2, 610878
  • Vesicoureteral Reflux
Tags
Red Red List (low evidence)
SHH
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
SIX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Branchiootorenal Spectrum Disorders
Tags
Red Red List (low evidence)
SLIT2
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
SMARCA4
1 review
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
SOX17
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Vesicoureteral reflux 3, 613674
Tags
Red Red List (low evidence)
SPRY1
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
TNXB
1 review
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
TSHZ3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
UMOD
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Uromodulin-associated kidney disease
  • Medullary Cystic Kidney Disease 2
  • Hyperuricemic nephropathy, familial juvenile 1, 162000
Tags
Red Red List (low evidence)
UPK2
2 reviews
2 red
Other - please specifiy in evaluation comments
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
UPK3A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal Adysplasia
Tags
Red Red List (low evidence)
VIPAS39
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Tags

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