Description
This is a temporary superpanel created to collate all the Genomics England renal panels (both from the 100K Genomes Project and the Genomic Medicine Service).

991 Entities

899 reviewed, 591 green

List Entity Reviews Mode of inheritance Details
991 Entitiess
Green Green List (high evidence)
ACE
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
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
  • Renal Tubular Dysgenesis 267430
Tags
Green Green List (high evidence)
ACE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis 267430
Tags
Green Green List (high evidence)
ACE
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
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
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310
Tags
Green Green List (high evidence)
ACTG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
  • visceral myopathy
  • Berdon syndrome
Tags
Green Green List (high evidence)
ACTG2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Berdon syndrome
  • visceral myopathy
  • Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
Tags
Green Green List (high evidence)
ACTN4
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 1 603278
Tags
Green Green List (high evidence)
ACTN4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 1 603278
Tags
Green Green List (high evidence)
ACTN4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 1 603278
Tags
Green Green List (high evidence)
AGT
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal Tubular Dysgenesis
  • {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGTR1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGTR1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • Renal tubular dysgenesis, 267430
  • Hypertension, essential, 145500
Tags
Green Green List (high evidence)
AGTR1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal Tubular Dysgenesis
  • Hypertension, essential, 145500
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGXT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperoxaluria, primary, type 1, 259900
  • Primary Hyperoxaluria
  • Hyperoxaluria
  • primary hyperoxaluria
  • Primary Hyperoxaluria Type 1
Tags
Green Green List (high evidence)
AGXT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Primary Hyperoxaluria Type 1
  • Primary Hyperoxaluria
  • Hyperoxaluria, primary, type 1, 259900
  • Hyperoxaluria
  • primary hyperoxaluria
Tags
Green Green List (high evidence)
AHI1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome-3 608629
Tags
Green Green List (high evidence)
AHI1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 3
  • Joubert syndrome
  • Joubert syndrome-3.
Tags
Green Green List (high evidence)
ALMS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alstrom Syndrome
  • Bardet-Biedl Syndrome
  • 203800
  • Alstrom syndrome
Tags
Green Green List (high evidence)
ALMS1
6 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Eligibility statement prior genetic testing
  • UKGTN
  • Expert list
Phenotypes
  • Alstrom Syndrome
  • Bardet-Biedl Syndrome
  • 203800
  • Alstrom syndrome
Tags
  • for-review
Green Green List (high evidence)
AMN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia-1, Norwegian type 261100
Tags
Green Green List (high evidence)
AMN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Megaloblastic anemia-1, Norwegian type 261100
Tags
Green Green List (high evidence)
ANKS6
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephronophthisis 16 615382
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
ANKS6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
ANKS6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
  • Nephronophthisis 16, 615382
  • Nephronophthisis
Tags
Green Green List (high evidence)
ANKS6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
Phenotypes
  • Nephronophthisis 16 615382
Tags
Green Green List (high evidence)
ANKS6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nephronopthisis 16 MIM 615382
Tags
Green Green List (high evidence)
ANOS1
5 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Kallman syndrome
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
Tags
Green Green List (high evidence)
ANOS1
7 reviews
2 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
  • Kallman syndrome
Tags
Green Green List (high evidence)
AP2S1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Familial hypocalciuric hypercalcemia type III 600740
Tags
Green Green List (high evidence)
APOA1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis, 3 or more types OMIM:105200
  • familial visceral amyloidosis MONDO:0007099
Tags
Green Green List (high evidence)
APOA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Tags
Green Green List (high evidence)
APOC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Tags
  • missense
Green Green List (high evidence)
APRT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Adenine phosphoribosyltransferase deficiency 614723
Tags
Green Green List (high evidence)
AQP2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800
  • Nephrogenic diabetes insipidus
Tags
  • treatable
Green Green List (high evidence)
ARHGDIA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 8 615244
Tags
Green Green List (high evidence)
ARHGDIA
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 8 615244
Tags
Green Green List (high evidence)
ARHGDIA
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 8 #615224
Tags
Green Green List (high evidence)
ARL13B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 8
Tags
Green Green List (high evidence)
ARL13B
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome type 8 612291
Tags
Green Green List (high evidence)
ARL6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardel-Biedl syndrome type 3 600151
Tags
Green Green List (high evidence)
ARL6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • {Bardet Biedl syndrome 1, modifier of}
  • Bardet-Biedl Syndrome
  • 268000
  • Bardet Biedl syndrome 3
Tags
Green Green List (high evidence)
ARMC9
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Joubert syndrome 30, 617622
Tags
  • for-review
Green Green List (high evidence)
ARMC9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 30, 617622
Tags
Green Green List (high evidence)
ATP1A1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypomagnesemia, seizures, and mental retardation 2 618314
  • Charcot-Marie-Tooth disease, axonal, type 2DD, 618036
Tags
Green Green List (high evidence)
ATP6V0A4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
Tags
Green Green List (high evidence)
ATP6V0A4
4 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722
Tags
  • Q3_21_MOI
  • watchlist_moi
Green Green List (high evidence)
ATP6V1B1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal tubular acidosis with deafness, 267300
  • Distal Renal Tubular Acidosis with Progressive Nerve Deafness
  • Distal renal tubular acidosis
Tags
Green Green List (high evidence)
ATP6V1B1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • distal renal tubular acidosis
  • Renal tubular acidosis with deafness 267300
Tags
Green Green List (high evidence)
AVPR2
2 reviews
1 green
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
  • Other
Phenotypes
  • Diabetes insipidus, nephrogenic, OMIM:304800
  • Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539
Tags
  • Skewed X-inactivation
  • treatable
Green Green List (high evidence)
B9D2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green Green List (high evidence)
B9D2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 34, OMIM:614175
  • Meckel syndrome 10, OMIM:614175
  • Meckel syndrome, type 10, MONDO:0013609
Tags
Green Green List (high evidence)
BBS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 1 OMIM:209900
  • Bardet-Biedl syndrome 1 MONDO:0008854
Tags
Green Green List (high evidence)
BBS10
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 10 615987
Tags
Green Green List (high evidence)
BBS10
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 10
Tags
Green Green List (high evidence)
BBS12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 12
Tags
Green Green List (high evidence)
BBS12
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 12 615989
Tags
Green Green List (high evidence)
BBS2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 2 615981
Tags
Green Green List (high evidence)
BBS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 2
Tags
Green Green List (high evidence)
BBS4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 4
Tags
Green Green List (high evidence)
BBS4
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 4 615982
Tags
Green Green List (high evidence)
BBS5
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 5
Tags
Green Green List (high evidence)
BBS5
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 5 615983
Tags
Green Green List (high evidence)
BBS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bardet Biedl syndrome 7
Tags
Green Green List (high evidence)
BBS7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 7
Tags
Green Green List (high evidence)
BBS9
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 9 615986
Tags
Green Green List (high evidence)
BBS9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 9
Tags
Green Green List (high evidence)
BNC2
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Other
Phenotypes
  • Posterior urethral valves
  • PUV
  • Congenital lower urinary-tract obstruction
  • Lower urinary tract obstruction, congenital, 618612
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
  • Lower urinary tract obstruction, congenital, 618612
Tags
Green Green List (high evidence)
BSND
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bartter syndrome, type 4a, 602522
  • Sensorineural deafness with mild renal dysfunction, 602522
Tags
Green Green List (high evidence)
BSND
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Bartter Syndrome
  • Bartter syndrome, type 4a, 602522
  • Sensorineural deafness with mild renal dysfunction, 602522
Tags
Green Green List (high evidence)
BSND
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypercalciuria
  • Bartter syndrome type 4a
  • Sensorineural deafness with mild renal dysfunction MIM 602522
Tags
Green Green List (high evidence)
C3
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • C3 deficiency 613779 AR
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Tags
Green Green List (high evidence)
C3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925
Tags
Green Green List (high evidence)
C3
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925
  • C3 glomerulopathy
  • C3G
Tags
Green Green List (high evidence)
C3
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • C3 deficiency 613779 AR
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Tags
Green Green List (high evidence)
C5orf42
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 17 614615
Tags
  • new-gene-name
Green Green List (high evidence)
C5orf42
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Oral-facial-digital syndrome type VI
  • Joubert syndrome 17
Tags
  • new-gene-name
Green Green List (high evidence)
CA2
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
  • Osteopetrosis with Renal Tubular Acidosis
Tags
Green Green List (high evidence)
CA2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
Tags
Green Green List (high evidence)
CASR
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Familial Hypocalciuric Hypercalcemia
  • Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,
  • Hypocalcemia (dominant)
  • Familial Hypocalciuric Hypercalcemia (dominant)
  • hypocalciuric hypercalcaemia
Tags
Green Green List (high evidence)
CASR
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198
  • Hypocalciuric hypercalcemia, type I, 145980
  • Hyperparathyroidism, neonatal, 239200
Tags
Green Green List (high evidence)
CC2D2A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 9
  • COACH syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome 6
  • Meckel syndrome
Tags
Green Green List (high evidence)
CC2D2A
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 9 612285
  • Meckel syndrome 6 612284
Tags
Green Green List (high evidence)
CD46
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Tags
Green Green List (high evidence)
CD46
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Tags
Green Green List (high evidence)
CD46
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Expert Review
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Tags
Green Green List (high evidence)
CENPF
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
  • for-review
Green Green List (high evidence)
CENPF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Stromme syndrome, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
Green Green List (high evidence)
CEP104
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 25
  • Joubert syndrome 25, 616781
Tags
Green Green List (high evidence)
CEP104
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Joubert syndrome 25, 616781
  • Joubert syndrome 25
Tags
Green Green List (high evidence)
CEP164
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nephronopthisis 15 MIM 614845
Tags
Green Green List (high evidence)
CEP164
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 15 614845
Tags
Green Green List (high evidence)
CEP164
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
CEP164
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ciliopathies
  • Nephronophthisis 15
  • Senior-Loken syndrome
  • Nephronophthisis 15, 614845
Tags
Green Green List (high evidence)
CEP164
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Nephronophthisis 15 614845
Tags
Green Green List (high evidence)
CEP290
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • 610189
  • Meckel syndrome 4
  • Senior-Loken syndrome
  • 611755
  • Joubert syndrome 5
  • Joubert syndrome with oculorenal defect
  • 610188
  • Senior-Loken syndrome 6
  • 611134
  • Meckel syndrome
Tags
Green Green List (high evidence)
CEP290
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 5 610188lLeber congenital amaurosis 10 611755
Tags
Green Green List (high evidence)
CEP41
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 15
Tags
Green Green List (high evidence)
CEP41
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 15 614464
Tags
Green Green List (high evidence)
CEP55
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500
  • MARCH syndrome
  • Meckel-like syndrome
  • lethal CEP55-related syndromes
Tags
Green Green List (high evidence)
CEP83
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nephronopthisis 18 MIM 615862
Tags
Green Green List (high evidence)
CEP83
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nephronophthisis 18 615862
Tags
Green Green List (high evidence)
CEP83
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • NEPHRONOPHTHISIS 18
Tags
Green Green List (high evidence)
CEP83
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NEPHRONOPHTHISIS 18
Tags
Green Green List (high evidence)
CFB
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Tags
Green Green List (high evidence)
CFB
6 reviews
1 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • MPGN
  • Membranoproliferative glomerulonephritis
Tags
  • for-review
Green Green List (high evidence)
CFB
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Tags
Green Green List (high evidence)
CFB
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Expert Review
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Tags
Green Green List (high evidence)
CFH
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400
Tags
Green Green List (high evidence)
CFH
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400
  • Dense Deposit Disease
  • Membranoproliferative Glomerulonephritis Type II
  • Immune-complex-mediated MPGN
Tags
  • for-review
Green Green List (high evidence)
CFH
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Complement factor H deficiency 609814
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
Tags
Green Green List (high evidence)
CFH
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400
  • Complement factor H deficiency 609814
Tags
Green Green List (high evidence)
CFHR1
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 235400
  • Immune-complex-mediated MPGN
Tags
  • currently-ngs-unreportable
Green Green List (high evidence)
CFHR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to 235400
Tags
Green Green List (high evidence)
CFHR1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • IC-MPGN
  • Immune-complex-mediated MPGN
  • C3 glomerulopathy
  • Immune complex MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 235400
  • C3G
Tags
Green Green List (high evidence)
CFHR2
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Immune-complex-mediated MPGN
Tags
  • currently-ngs-unreportable
Green Green List (high evidence)
CFHR3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Literature
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to 235400
Tags
Green Green List (high evidence)
CFHR3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to 235400
Tags
Green Green List (high evidence)
CFHR5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Haematuria
  • macroscopic haematuria
  • kidney failure
  • C3 glomerulopathy
Tags
Green Green List (high evidence)
CFHR5
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Nephropathy due to CFHR5 deficiency,614809
  • Immune-complex-mediated MPGN
  • CFHR5 nephropathy
Tags
  • currently-ngs-unreportable
Green Green List (high evidence)
CFI
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Tags
Green Green List (high evidence)
CFI
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Tags
Green Green List (high evidence)
CFI
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Tags
Green Green List (high evidence)
CFI
6 reviews
2 green 2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
  • Immune-complex-mediated MPGN
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923
Tags
  • for-review
Green Green List (high evidence)
CHD7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • CHARGE syndrome
Tags
Green Green List (high evidence)
CHD7
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
Phenotypes
  • CHARGE syndrome 214800
Tags
Green Green List (high evidence)
CHD7
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • CHARGE syndrome 214800
Tags
Green Green List (high evidence)
CHRNA3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CAKUT
  • dysautonomia
Tags
Green Green List (high evidence)
CLCN5
3 reviews
1 green
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
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dent disease, 300009
  • Nephrolithiasis, type I, 310468
  • Hypophosphatemic rickets, 300554
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Tags
Green Green List (high evidence)
CLCN5
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Dent Disease
  • Dent disease, 300009
  • Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
  • Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD
Tags
Green Green List (high evidence)
CLCN5
2 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Nephrolithiasis, type I, 310468
  • Dent disease, 300009
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
  • Hypophosphatemic rickets, 300554
Tags
Green Green List (high evidence)
CLCN5
1 review
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dent disease, 300009
  • Nephrolithiasis, type I, 310468
  • Hypophosphatemic rickets, 300554
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Tags
Green Green List (high evidence)
CLCNKB
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
  • Bartter syndrome, type 3, 607394
Tags
Green Green List (high evidence)
CLCNKB
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bartter syndrome, type 3, 607364
  • Type 3 Bartter syndrome
  • Bartter syndrome, type 4b, digenic, 613090
  • BARTTER SYNDROME TYPE 4B
Tags
Green Green List (high evidence)
CLDN16
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Hypomagnesemia 3, renal
Tags
Green Green List (high evidence)
CLDN16
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypomagnesemia 3, renal 248250
Tags
Green Green List (high evidence)
CLDN19
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • hypomagensemia with nephrocalcinosis
  • Hypomagnesemia 5, renal, with ocular involvement
Tags
Green Green List (high evidence)
CLDN19
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypomagnesemia 5, renal, with ocular involvement, 248190
Tags
Green Green List (high evidence)
COL4A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Exophytic renal cysts
  • haematuria
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773
Tags
Green Green List (high evidence)
COL4A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Exophytic renal cysts
  • raised creatinine kinase
  • tortuous retinal vessels
  • intracranial anuerysms
  • haematuria
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
Tags
Green Green List (high evidence)
COL4A1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • raised creatinine kinase
  • tortuous retinal vessels
  • intracranial anuerysms
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
  • Exophytic renal cysts
  • haematuria
Tags
Green Green List (high evidence)
COL4A3
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Alport syndrome, autosomal recessive, 203780
  • Hematuria, benign familial, 141200
  • Alport syndrome, autosomal dominant, 104200
Tags
Green Green List (high evidence)
COL4A3
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome, autosomal dominant OMIM:104200
  • Alport syndrome, autosomal recessive OMIM:203780
  • Hematuria, benign familial OMIM:141200
Tags
Green Green List (high evidence)
COL4A3
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Alport syndrome, autosomal dominant #104200
  • Alport syndrome, autosomal recessive #203780
  • Hematuria, benign familial #141200
Tags
Green Green List (high evidence)
COL4A3
2 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alport syndrome, autosomal recessive, 203780
  • Alport syndrome, autosomal dominant, 104200
  • Hematuria, benign familial, 141200
Tags
Green Green List (high evidence)
COL4A4
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome 2, autosomal recessive OMIM:203780
  • Hematuria, familial benign OMIM:141200
Tags
Green Green List (high evidence)
COL4A4
4 reviews
3 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Alport syndrome 2, autosomal recessive, OMIM:203780
  • Hematuria,familial benign, OMIM:141200
Tags
Green Green List (high evidence)
COL4A4
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Alport syndrome 2, autosomal recessive, OMIM:203780
  • Hematuria,familial benign, OMIM:141200
Tags
Green Green List (high evidence)
COL4A4
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome 2, autosomal recessive, OMIM:203780
  • Hematuria,familial benign, OMIM:141200
Tags
Green Green List (high evidence)
COL4A5
3 reviews
2 green
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
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome 1, X-linked OMIM:301050
Tags
Green Green List (high evidence)
COL4A5
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alport syndrome 301050
Tags
Green Green List (high evidence)
COL4A5
4 reviews
3 green
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
  • Eligibility statement prior genetic testing
Phenotypes
  • Alports
  • Familial benign haematuria
  • Alport syndrome
  • proteinuria
  • haematuria
  • FSGS
Tags
Green Green List (high evidence)
COL4A5
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Alport syndrome 301050
Tags
Green Green List (high evidence)
COQ2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Tags
Green Green List (high evidence)
COQ2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Tags
Green Green List (high evidence)
COQ2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Tags
Green Green List (high evidence)
COQ6
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6 614650
Tags
Green Green List (high evidence)
COQ6
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6 #614650
Tags
Green Green List (high evidence)
COQ6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Coenzyme Q10 deficiency, primary, 6 614650
Tags
Green Green List (high evidence)
COQ8B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 9 #615573
Tags
Green Green List (high evidence)
COQ8B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nephrotic syndrome, type 9 615573
Tags
Green Green List (high evidence)
COQ8B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nephrotic syndrome, type 9 615573
Tags
Green Green List (high evidence)
CRB2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green Green List (high evidence)
CRB2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • steroid resistant nephrotic syndrome
  • Focal segmental glomerulosclerosis 9 #616220
  • Ventriculomegaly with cystic kidney disease #219730
Tags
Green Green List (high evidence)
CRB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Ventriculomegaly with cystic kidney disease 219730
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 21
  • Joubert syndrome
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
CSPP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Meckel syndrome
  • Joubert syndrome 21
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
CTNS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Expert Review
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
Tags
Green Green List (high evidence)
CTNS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
Tags
Green Green List (high evidence)
CTNS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Literature
  • UKGTN
Phenotypes
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
  • Cystinosis, ocular nonnephropathic 219750
Tags
Green Green List (high evidence)
CTU2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • DREAMÔÇÉPL syndrome
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142
Tags
Green Green List (high evidence)
CUBN
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Finnish type, 261100
  • Megaloblastic Anemia
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Green Green List (high evidence)
CUBN
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100
Tags
Green Green List (high evidence)
CUBN
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100
Tags
Green Green List (high evidence)
CUL3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Pseudohypoaldosteronism, type IIE, 614496
Tags
Green Green List (high evidence)
CUL3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type IIE, 214496
Tags
Green Green List (high evidence)
CYP11B1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010
  • Aldosteronism, glucocorticoid-remediable, 103900
  • Early onset hypertension with raised urinary 18-hydroxy-steroids
  • steroid-sensitive.
Tags
Green Green List (high evidence)
CYP11B2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aldosterone to renin ratio raised, Glucucorticoid-remediable hyperaldosteronsim
Tags
Green Green List (high evidence)
CYP17A1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • 17,20-lyase deficiency, isolated 202110
  • 17-alpha-hydroxylase/17,20-lyase deficiency 202110
Tags
Green Green List (high evidence)
CYP24A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Infantile Hypercalcemia
  • Hypercalcemia, infantile, 143880
  • Infantile hypercalcaemia
Tags
Green Green List (high evidence)
CYP24A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypercalcemia, infantile, 1 143880
Tags
Green Green List (high evidence)
DDX59
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome V, 174300
Tags
Green Green List (high evidence)
DDX59
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Tags
Green Green List (high evidence)
DGKE
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 7 615008
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008
Tags
Green Green List (high evidence)
DGKE
4 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008
  • Nephrotic syndrome, type 7, 615008
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
Tags
  • for-review
Green Green List (high evidence)
DGKE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • UKGTN
  • Expert Review
Phenotypes
  • Nephrotic syndrome, type 7 615008
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008
Tags
Green Green List (high evidence)
DGKE
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008
Tags
Green Green List (high evidence)
DHCR7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
Green Green List (high evidence)
DHCR7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Smith-Lemli-Opitz syndrome, 270400
  • renal agenesis
Tags
Green Green List (high evidence)
DHCR7
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Smith-Lemli-Opitz syndrome 270400
Tags
  • for-review
Green Green List (high evidence)
DLC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Childhood and adult SSNS and SRNS
Tags
Green Green List (high evidence)
DLC1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Childhood and adult SSNS and SRNS
Tags
Green Green List (high evidence)
DNAJB11
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Other
Phenotypes
  • Polycystic kidney disease
  • Tubulointerstitial kidney disease
  • cystic kidney disease
  • non-enlarged kidney
  • end stage renal failure
Tags
Green Green List (high evidence)
DNAJB11
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • cystic kidney disease
  • end stage renal failure
  • non-enlarged kidney
  • Polycystic kidney disease
  • Tubulointerstitial kidney disease
Tags
Green Green List (high evidence)
DSTYK
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia
  • {Congenital anomalies of kidney and urinary tract, susceptibility to}
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
  • ureteropelvic junction obstruction
  • {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
  • vesicoureteric reflux
Tags
Green Green List (high evidence)
DSTYK
5 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • 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)
DSTYK
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • {Congenital anomalies of kidney and urinary tract, susceptibility to} 610805
Tags
Green Green List (high evidence)
DYNC2H1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
  • Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
  • Short-rib thoracic dysplasia 3 with or without polydactyly
  • Jeune syndrome
Tags
Green Green List (high evidence)
DYNC2H1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Short-rib thoracic dysplasia 3 with or without polydactyly
  • Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel
  • Jeune syndrome
  • Short-rib thoracic dysplasia 3 with or without polydactyly, 613091
Tags
Green Green List (high evidence)
DZIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • ARPKD
  • Polycystic kidney disease 5 617610
Tags
Green Green List (high evidence)
DZIP1L
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • ARPKD
  • Polycystic kidney disease 5 617610
Tags
Green Green List (high evidence)
EMP2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • steroid sensitive nephrotic syndrome
  • Nephrotic syndrome, type 10 #615861
Tags
Green Green List (high evidence)
EMP2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • steroid sensitive nephrotic syndrome
  • Nephrotic syndrome, type 10 #615861
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)
EYA1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts 113650
Tags
Green Green List (high evidence)
EYA1
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Otofaciocervical syndrome, 166780
  • Branchiootic syndrome 1, 602588
  • Branchiootorenal syndrome 1, with or without cataracts
  • Branchiootorenal Spectrum Disorders
  • Anterior segment anomalies with or without cataract, 113650
Tags
Green Green List (high evidence)
FAH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Tyrosinemia, type I 276700
Tags
Green Green List (high evidence)
FAM20A
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690
Tags
Green Green List (high evidence)
FAM58A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • STAR syndrome, 300707
  • Syndactyly, Telecanthus, Anogenital malformations and Renal malformations
Tags
Green Green List (high evidence)
FAN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • interstitial nephritis
  • chronic kidney disease
  • Interstitial nephritis, karyomegalic 614817
Tags
Green Green List (high evidence)
FAN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • interstitial nephritis
  • chronic kidney disease
  • Interstitial nephritis, karyomegalic 614817
Tags
Green Green List (high evidence)
FAT1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulotubular nephropathy
Tags
Green Green List (high evidence)
FAT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulotubular nephropathy
Tags
Green Green List (high evidence)
FGA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis, familial visceral 105200
Tags
Green Green List (high evidence)
FRAS1
6 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Fraser syndrome 219000
  • Fraser syndrome
Tags
Green Green List (high evidence)
FRAS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fraser syndrome
Tags
Green Green List (high evidence)
FRAS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Fraser syndrome 219000
Tags
Green Green List (high evidence)
FREM1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Bifid nose with or without anorectal and renal anomalies, 608980
Tags
Green Green List (high evidence)
FREM1
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Bifid nose with or without anorectal and renal anomalies, 608980
Tags
Green Green List (high evidence)
FREM1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bifid nose with or without anorectal and renal anomalies, 608980
Tags
Green Green List (high evidence)
FREM2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Fraser syndrome 219000
  • Fraser syndrome
Tags
Green Green List (high evidence)
FREM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Fraser syndrome 219000
Tags
Green Green List (high evidence)
FREM2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fraser syndrome
Tags
Green Green List (high evidence)
GANAB
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Mild cystic kidney and liver disease
  • Polycyctic kidney disease 3
Tags
Green Green List (high evidence)
GANAB
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mild cystic kidney and liver disease
  • Polycyctic kidney disease 3
Tags
Green Green List (high evidence)
GATA3
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
  • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Tags
Green Green List (high evidence)
GATA3
1 review
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 dysplasia, 146255
Tags
Green Green List (high evidence)
GATA3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Tags
Green Green List (high evidence)
GATM
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal fanconi syndrome and kidney failure (no MIM number)
  • Cerebral creatine deficiency syndrome 3, 612718 (AR)
Tags
Green Green List (high evidence)
GATM
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal fanconi syndrome and kidney failure
Tags
Green Green List (high evidence)
GATM
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Renal fanconi syndrome and kidney failure
Tags
Green Green List (high evidence)
GLA
1 review
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • renal insufficiency
  • renal failure
  • Fabry disease, 301500
Tags
Green Green List (high evidence)
GLA
4 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Fabry disease, 301500
  • renal insufficiency
  • renal failure
Tags
Green Green List (high evidence)
GLI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Pallister-Hall syndrome
Tags
Green Green List (high evidence)
GLI3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Pallister-Hall syndrome 146510
Tags
Green Green List (high evidence)
GLI3
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Pallister-Hall syndrome
  • Pallister-Hall syndrome 146510
Tags
Green Green List (high evidence)
GNA11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypocalcemia, autosomal dominant 2 615361
Tags
Green Green List (high evidence)
GPC3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1 312870
Tags
Green Green List (high evidence)
GREB1L
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Renal hypodysplasia/aplasia 3, 617805
Tags
Green Green List (high evidence)
GRHPR
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Primary Hyperoxaluria
  • Primary Hyperoxaluria Type 2
  • Hyperoxaluria, primary, type II, 260000
  • Hyperoxaluria
Tags
Green Green List (high evidence)
GRHPR
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Primary Hyperoxaluria
  • Primary Hyperoxaluria Type 2
  • Hyperoxaluria, primary, type II, 260000
  • Hyperoxaluria
Tags
Green Green List (high evidence)
GRIP1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Fraser syndrome 219000
  • Fraser syndrome
  • isolated CAKUT
Tags
Green Green List (high evidence)
GRIP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fraser syndrome
  • isolated CAKUT
Tags
Green Green List (high evidence)
GRIP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Fraser syndrome 219000
Tags
Green Green List (high evidence)
GSN
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis, Finnish type 105120
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)
HAAO
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • VACTERL-like phenotype
  • Multiple congenital malformations
Tags
Green Green List (high evidence)
HNF1B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal cysts and diabetes syndrome, 137920
  • Diabetes mellitus, noninsulin-dependent, 125853
Tags
Green Green List (high evidence)
HNF1B
9 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Diabetes mellitus, noninsulin-dependent 125853
  • {Renal cell carcinoma} 144700
  • Diabetes mellitus, noninsulin-dependent
  • Renal cysts and diabetes syndrome
  • Renal cysts and diabetes syndrome 137920
Tags
Green Green List (high evidence)
HNF1B
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Literature
Phenotypes
  • Renal cysts and diabetes syndrome
Tags
Green Green List (high evidence)
HNF1B
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Renal cysts and diabetes syndrome
  • Diabetes mellitus, noninsulin-dependent
Tags
Green Green List (high evidence)
HNF1B
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Other
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Diabetes mellitus, noninsulin-dependent 125853
  • Renal cysts and diabetes syndrome 137920
  • {Renal cell carcinoma} 144700
Tags
Green Green List (high evidence)
HNF1B
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
Tags
Green Green List (high evidence)
HNF1B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Renal cysts and diabetes syndrome MIM 137920
  • NIDDM MIM 125853
Tags
Green Green List (high evidence)
HOGA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperoxaluria
  • Primary Hyperoxaluria
  • Hyperoxaluria, primary, type III, 613616
Tags
Green Green List (high evidence)
HOGA1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Primary Hyperoxaluria
  • Hyperoxaluria, primary, type III, 613616
  • Hyperoxaluria
Tags
Green Green List (high evidence)
HOXA13
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hand-foot-uterus syndrome, 140000
Tags
Green Green List (high evidence)
HPRT1
3 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Hyperuricemia, HRPT-related, OMIM:300323
  • Lesch-Nyhan syndrome, OMIM:300322
Tags
Green Green List (high evidence)
HPSE2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Urofacial syndrome 1 236730
Tags
Green Green List (high evidence)
HPSE2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Congenital bladder disease: dyssynergic, high pressure bladder
  • Urofacial syndrome 1 236730
  • Urofacial Syndrome
Tags
Green Green List (high evidence)
HPSE2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Urofacial Syndrome
  • Congenital bladder disease: dyssynergic, high pressure bladder
Tags
Green Green List (high evidence)
HSD11B2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert
Phenotypes
  • Apparent mineralocorticoid excess, 218030
Tags
Green Green List (high evidence)
HYLS1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hydrolethalus syndrome, 236680
  • Joubert syndrome
Tags
Green Green List (high evidence)
HYLS1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Joubert syndrome
  • Hydrolethalus syndrome, 236680
Tags
Green Green List (high evidence)
ICK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • new-gene-name
Green Green List (high evidence)
ICK
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Endocrine-cerebroosteodysplasia, OMIM:612651
  • Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Tags
  • for-review
  • new-gene-name
  • watchlist
Green Green List (high evidence)
IFT122
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Cranioectodermal dysplasia
  • Cranioectodermal dysplasia 1, 218330
Tags
Green Green List (high evidence)
IFT122
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cranioectodermal dysplasia 1, 218330
  • Cranioectodermal dysplasia
Tags
Green Green List (high evidence)
IFT43
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
  • Sensenbrenner syndrome
  • Short-rib thoracic dysplasia 18 with polydactyly, 617866
Tags
Green Green List (high evidence)
IFT43
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
  • Sensenbrenner syndrome
  • Short-rib thoracic dysplasia 18 with polydactyly, 617866
Tags
Green Green List (high evidence)
INF2
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 5 613237
  • Charcot-Marie-Tooth disease, dominant intermediate E 614455
Tags
Green Green List (high evidence)
INF2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate E 614455
  • Glomerulosclerosis, focal segmental, 5 613237
Tags
Green Green List (high evidence)
INF2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 5 #613237
  • Adult onset nephrotic syndrome (+CMT)
  • FSGS
  • proteinuria
  • renal failure
Tags
Green Green List (high evidence)
INPP5E
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 1 213300
Tags
Green Green List (high evidence)
INPP5E
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Joubert syndrome 1
Tags
Green Green List (high evidence)
INVS
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephronophthisis 2, infantile 602088
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
INVS
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nephronopthisis 2, infantile MIM 602088
Tags
Green Green List (high evidence)
INVS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
INVS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Nephronophthisis 2, infantile 602088
Tags
Green Green List (high evidence)
INVS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Senior-Loken syndrome
  • Nephronophthisis 2, infantile, 602088
  • Nephronophthisis
Tags
Green Green List (high evidence)
IQCB1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Senior-Loken syndrome 5 609254
Tags
Green Green List (high evidence)
IQCB1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Senior-Loken syndrome 5, 609254
  • Senior-Loken syndrome
Tags
Green Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • 194072
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
Tags
Green Green List (high evidence)
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
  • 194072
Tags
Green Green List (high evidence)
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss
Region
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 609583
  • 266900
  • juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities
Tags
Green Green List (high evidence)
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss
Region
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • 609583
  • juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities
  • 266900
Tags
Green Green List (high evidence)
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss
Region
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities
  • 266900
  • 609583
Tags
Green Green List (high evidence)
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss
Region
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities
  • 266900
  • 609583
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
  • Expert Review Green
  • ClinGen
Phenotypes
  • Schizophrenia
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • delayed development, intellectual disability
  • 614527
  • RCAD syndrome
  • utero-vaginal atresia
  • Chromosome 17q12 deletion syndrome
  • Autism Spectrum Disorder
  • global developmental delay
  • Renal cysts and diabetes syndrome
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
  • Expert Review Green
  • ClinGen
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)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
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)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • ClinGen
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)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Schizophrenia
  • Renal cysts and diabetes syndrome
  • delayed development, intellectual disability
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • global developmental delay
  • 614527
  • RCAD syndrome
  • Chromosome 17q12 deletion syndrome
  • utero-vaginal atresia
Tags
Green Green List (high evidence)
ITGA3
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748
Tags
Green Green List (high evidence)
ITGA3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748
Tags
Green Green List (high evidence)
ITGA3
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748
Tags
Green Green List (high evidence)
ITGA8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
Tags
Green Green List (high evidence)
ITGA8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
Tags
Green Green List (high evidence)
ITGA8
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
Tags
Green Green List (high evidence)
ITSN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Early childhood SSNS
Tags
Green Green List (high evidence)
ITSN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Early childhood SSNS
Tags
Green Green List (high evidence)
JAG1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alagille syndrome 1, OMIM:118450
Tags
Green Green List (high evidence)
KCNJ1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypercalciuria
  • Type 2 Bartter syndrome
  • often initial transient hyperkalemia
  • Bartter syndrome, type 2, 241200
Tags
Green Green List (high evidence)
KCNJ1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Antenatal Bartter Syndrome
  • Bartter syndrome, type 2, 241200
  • Type 2 Bartter syndrome
  • often initial transient hyperkalemia
Tags
Green Green List (high evidence)
KCNJ10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • SESAME/EAST syndrome, 612780
Tags
Green Green List (high evidence)
KCNJ5
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Hyperaldosteronism, familial, type III 613677
Tags
Green Green List (high evidence)
KDM6A
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Kabuki syndrome 2, 300867
Tags
Green Green List (high evidence)
KIAA0586
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Joubert syndrome 23
  • Joubert syndrome
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Short-rib dysplasia 14 with polydactyly
Tags
Green Green List (high evidence)
KIAA0586
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 23
  • Joubert syndrome
  • Short-rib thoracic dysplasia 14 with polydactyly
  • Short-rib dysplasia 14 with polydactyly
Tags
Green Green List (high evidence)
KIAA0753
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short-rib skeletal dysplasia
  • ?Orofaciodigital syndrome XV 617127
  • Joubert syndrome
Tags
Green Green List (high evidence)
KIAA0753
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
Phenotypes
  • ?Orofaciodigital syndrome XV 617127
  • Joubert syndrome
  • Short-rib skeletal dysplasia
Tags
Green Green List (high evidence)
KIF7
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 12 200990
  • Acrocallosal syndrome 200990
Tags
Green Green List (high evidence)
KIF7
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Acrocallosal syndrome 200990
  • Joubert syndrome 12 200990
Tags
Green Green List (high evidence)
KLHL3
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pseudohypoaldosteronism, type IID, 614495
Tags
Green Green List (high evidence)
KLHL3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type IID, 614495
Tags
Green Green List (high evidence)
KMT2D
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Kabuki syndrome 1, 147920
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)
KYNU
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • ?Hydroxykynureninuria, 236800
  • multiple congenital malformations
  • VACTERL-like phenotype
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
Tags
Green Green List (high evidence)
LAGE3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked #301006
Tags
Green Green List (high evidence)
LAGE3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 2, X-linked #301006
Tags
Green Green List (high evidence)
LAMB2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 5, with or without ocular abnormalities #614199
  • Pierson syndrome #609049
Tags
Green Green List (high evidence)
LAMB2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pierson syndrome 609049
  • Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
Tags
Green Green List (high evidence)
LAMB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
  • Pierson syndrome 609049
Tags
Green Green List (high evidence)
LIFR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CAKUT
Tags
Green Green List (high evidence)
LMX1B
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Nail-patella syndrome 161200
Tags
Green Green List (high evidence)
LMX1B
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Nail-patella syndrome #161200
  • FSGS
  • proteinuria
  • kidney failure
  • isolated glomerulopathy
Tags
Green Green List (high evidence)
LMX1B
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Nail-patella syndrome 161200
Tags
Green Green List (high evidence)
LRIG2
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Urofacial syndrome
  • Urofacial syndrome 2 615112
  • Congenital bladder disease: dyssynergic, high pressure bladder.
Tags
Green Green List (high evidence)
LRIG2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Urofacial syndrome
  • Congenital bladder disease: dyssynergic, high pressure bladder.
Tags
Green Green List (high evidence)
LRIG2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Urofacial syndrome 2 615112
Tags
Green Green List (high evidence)
LRP4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cenani-Lenz syndactyly syndrome, 212780
Tags
Green Green List (high evidence)
LYZ
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis, renal 105200
Tags
Green Green List (high evidence)
LZTFL1
4 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
  • Expert Review Green
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Tags
Green Green List (high evidence)
LZTFL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bardet-Biedl syndrome 17, 615994
Tags
Green Green List (high evidence)
MAGED2
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bartter syndrome, type 5, antenatal, transient, 300971
Tags
Green Green List (high evidence)
MAGI2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 15 617609
Tags
Green Green List (high evidence)
MAGI2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 15 617609
Tags
Green Green List (high evidence)
MAPKBP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • NEPHRONOPHTHISIS 20
Tags
Green Green List (high evidence)
MAPKBP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephronophthisis 20 617271
Tags
Green Green List (high evidence)
MAPKBP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nephronopthisis 20 MIM 6175271
Tags
Green Green List (high evidence)
MAPKBP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • NEPHRONOPHTHISIS 20
Tags
Green Green List (high evidence)
MKKS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bardet Biedl syndrome 6
  • 236700
Tags
Green Green List (high evidence)
MKKS
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 6
  • 236700
Tags
Green Green List (high evidence)
MKS1
5 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • occipital encephalocele
  • Joubert syndrome
  • Bardet-Biedl syndrome
  • Joubert syndrome 28
  • 249000
  • polydactyly
  • polycystic kidneys
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • renal fibrosis
Tags
Green Green List (high evidence)
MKS1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 13 615990
  • Meckel syndrome 1 249000
Tags
Green Green List (high evidence)
MMACHC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Green Green List (high evidence)
MMACHC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Green Green List (high evidence)
MT-TF
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • renal insufficiency
  • Tubulointerstitial kidney disease
  • tubulointerstitial nephritis
  • renal failur
Tags
Green Green List (high evidence)
MT-TF
2 reviews
1 green
MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Tubulointerstitial kidney disease
  • tubulointerstitial nephritis
  • renal insufficiency
  • renal failure
Tags
Green Green List (high evidence)
MTX2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • Mandibuloacral dysplasia
  • lipodystrophy
  • arterial calcification
  • severe hypertension
Tags
Green Green List (high evidence)
MUC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Medullary cystic kidney disease 1 MIM 174000
Tags
Green Green List (high evidence)
MUC1
7 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Medullary cystic kidney disease 1, 174000
  • Medullary cystic kidney disease 1
Tags
Green Green List (high evidence)
MUC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Medullary cystic kidney disease 1 174000
Tags
Green Green List (high evidence)
MYH9
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Epstein syndrome #153650
  • Fechtner syndrome #153640
Tags
Green Green List (high evidence)
MYH9
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epstein syndrome 153650
  • Fechtner syndrome 153640
Tags
Green Green List (high evidence)
MYH9
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Epstein syndrome 153650
  • Fechtner syndrome 153640
Tags
Green Green List (high evidence)
MYH9
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100
Tags
Green Green List (high evidence)
MYO1E
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 6 614131
Tags
Green Green List (high evidence)
MYO1E
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 6 614131
Tags
Green Green List (high evidence)
MYO1E
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 6 #614131
Tags
Green Green List (high evidence)
MYOCD
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Megabladder, congenital, OMIM:618719
  • Megabladder, congenital, MONDO:0032879
Tags
Green Green List (high evidence)
NADSYN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 3 618845
Tags
Green Green List (high evidence)
NEK8
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
Tags
Green Green List (high evidence)
NEK8
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Renal-hepatic-pancreatic dysplasia
  • ?Renal-hepatic-pancreatic dysplasia 2, 615415
  • Nephronophthisis
  • ?Nephronophthisis 9, 613824
Tags
Green Green List (high evidence)
NIPBL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 1 122470
Tags
Green Green List (high evidence)
NOTCH2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alagille syndrome 2 610205
Tags
Green Green List (high evidence)
NPHP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Joubert syndrome 4 MIM 609583
  • Senior-Loken syndrome-1 MIM 266900
  • Nephronopthisis 1, juvenile MIM 256100
Tags
Green Green List (high evidence)
NPHP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
NPHP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert
Phenotypes
  • Joubert syndrome 4 609583
  • Nephronophthisis 1, juvenile 256100
  • Senior-Loken syndrome-1 266900
Tags
Green Green List (high evidence)
NPHP1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 4 609583
  • Ciliopathy genes associated with cystic kidney disease
  • Senior-Loken syndrome-1 266900
  • Nephronophthisis 1, juvenile 256100
Tags
Green Green List (high evidence)
NPHP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Joubert syndrome 4
  • Senior-Loken syndrome
  • 256100 Senior-Loken syndrome-1, 266900
  • 609583 Nephronophthisis 1, juvenile
  • Nephronophthisis
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)
NPHP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Renal-hepatic-pancreatic dysplasia
  • Senior-Loken syndrome
  • Nephronophthisis 3, 604387
  • Meckel syndrome 7, 267010
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Nephronophthisis
Tags
Green Green List (high evidence)
NPHP3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
NPHP3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 1, MIM 208540
  • Meckel syndrome 7, MIM 267010
  • Nephronopthisis 3 MIM 604387
Tags
Green Green List (high evidence)
NPHP3
7 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Meckel syndrome 7, 267010
  • Renal-Hepatic-Pancreatic Dysplasia
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 3, 604387
  • Renal-hepatic-pancreatic dysplasia 1, 208540
Tags
Green Green List (high evidence)
NPHP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Nephronophthisis 3, 604387
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Meckel syndrome 7, 267010
Tags
Green Green List (high evidence)
NPHP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Senior-Loken syndrome
  • Nephronophthisis
  • Senior-Loken syndrome 4, 606996
  • Nephronophthisis 4, 606966
Tags
Green Green List (high evidence)
NPHP4
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Nephronophthisis 4 606966
  • Senior-Loken syndrome 4 606996
Tags
Green Green List (high evidence)
NPHP4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
NPHP4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 4 MIM 606996
  • Nephronopthisis 4 MIM 606966
Tags
Green Green List (high evidence)
NPHP4
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome 4 606996
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 4 606966
Tags
Green Green List (high evidence)
NPHS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 1 256300
Tags
Green Green List (high evidence)
NPHS1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 1 256300
Tags
Green Green List (high evidence)
NPHS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 1 #602716
Tags
Green Green List (high evidence)
NPHS2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 2 600995
Tags
Green Green List (high evidence)
NPHS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 2 600995
Tags
Green Green List (high evidence)
NPHS2
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 2 #600995
Tags
Green Green List (high evidence)
NR3C1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Glucocorticoid resistance 615962
Tags
Green Green List (high evidence)
NR3C2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115
Tags
Green Green List (high evidence)
NR3C2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism type I, autosomal dominant, 177735
  • Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern
Tags
Green Green List (high evidence)
NUP107
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 11 #616730
Tags
Green Green List (high evidence)
NUP107
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 11 616730
Tags
Green Green List (high evidence)
NUP107
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 11 616730
Tags
Green Green List (high evidence)
NUP133
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Galloway-Mowat syndrome 8 618349
  • Nephrotic syndrome, type 18 618177
Tags
Green Green List (high evidence)
NUP133
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 18 618177
  • ?Galloway-Mowat syndrome 8 618349
Tags
Green Green List (high evidence)
NUP85
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 17 #618176
Tags
Green Green List (high evidence)
NUP85
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 17 #618176
Tags
Green Green List (high evidence)
NUP93
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 12 616892
Tags
Green Green List (high evidence)
NUP93
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 12 616892
Tags
Green Green List (high evidence)
NUP93
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
  • Nephrotic syndrome, type 12 #616892
Tags
Green Green List (high evidence)
OCRL
4 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lowe syndrome, OMIM:309000
  • Dent disease 2, OMIM:300555
  • As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome
Tags
Green Green List (high evidence)
OCRL
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Lowe syndrome, OMIM:309000
  • Dent disease 2, OMIM:300555
Tags
Green Green List (high evidence)
OCRL
4 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Lowe syndrome, OMIM:309000
  • Dent disease 2, OMIM:300555
Tags
Green Green List (high evidence)
OFD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome 10
  • X-linked Joubert syndrome
  • Orofaciodigital syndrome I
Tags
Green Green List (high evidence)
OFD1
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Expert Review
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Joubert syndrome 10 300804
  • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Tags
Green Green List (high evidence)
OFD1
5 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 10 300804
  • Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Tags
Green Green List (high evidence)
OSGEP
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 3 617729
Tags
Green Green List (high evidence)
OSGEP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Galloway-Mowat syndrome 3 617729
Tags
Green Green List (high evidence)
PAX2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Glomerulosclerosis, focal segmental, 7 #616002
Tags
Green Green List (high evidence)
PAX2
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Papillorenal syndrome, 120330
  • RENAL-COLOBOMA SYNDROME
  • Papillorenal syndrome
  • Glomerulosclerosis, focal segmental, 7
  • Glomerulosclerosis, focal segmental, 7 616002
Tags
Green Green List (high evidence)
PAX2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Glomerulosclerosis, focal segmental, 7 616002
  • Papillorenal syndrome 120330
Tags
Green Green List (high evidence)
PAX2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • 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
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
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)
PDSS2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Eligibility statement prior genetic testing
Phenotypes
  • Coenzyme Q10 deficiency, primary, 3 #614652
  • Leigh syndrome
Tags
Green Green List (high evidence)
PHEX
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Hypophosphatemic rickets, X-linked dominant 307800
Tags
Green Green List (high evidence)
PKD1
5 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
  • Autosomal recessive polycystic kidney disease (ARPKD)
  • Autosomal dominant polycystic kidney disease (ADPKD)
Tags
Green Green List (high evidence)
PKD1
3 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
  • Autosomal recessive polycystic kidney disease (ARPKD)
  • Autosomal dominant polycystic kidney disease (ADPKD)
Tags
Green Green List (high evidence)
PKD1
3 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
  • Autosomal recessive polycystic kidney disease (ARPKD)
  • Autosomal dominant polycystic kidney disease (ADPKD)
Tags
Green Green List (high evidence)
PKD1
2 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • UKGTN
Phenotypes
  • Polycystic kidney disease, adult type I, 173900
  • Autosomal recessive polycystic kidney disease (ARPKD)
  • Autosomal dominant polycystic kidney disease (ADPKD)
Tags
Green Green List (high evidence)
PKD2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Autosomal Dominant Polycystic Kidney Disease
  • Polycystic Kidney Disease, Autosomal Dominant
  • Polycystic kidney disease 2, 613095
Tags
Green Green List (high evidence)
PKD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Polycystic kidney disease 2, 613095
Tags
Green Green List (high evidence)
PKD2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Polycystic Kidney Disease, Autosomal Dominant
  • Polycystic kidney disease 2, 613095
  • Autosomal Dominant Polycystic Kidney Disease
Tags
Green Green List (high evidence)
PKD2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Polycystic kidney disease 2, 613095
Tags
Green Green List (high evidence)
PKHD1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Polycystic kidney and hepatic disease, 263200
Tags
Green Green List (high evidence)
PKHD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Polycystic kidney and hepatic disease, 263200
Tags
Green Green List (high evidence)
PKHD1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Autosomal Recessive Polycystic Kidney Disease
  • Polycystic Kidney Disease, Autosomal Recessive
  • Polycystic kidney and hepatic disease, 263200
Tags
Green Green List (high evidence)
PKHD1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polycystic Kidney Disease, Autosomal Recessive
  • Polycystic kidney and hepatic disease, 263200
  • Autosomal Recessive Polycystic Kidney Disease
Tags
Green Green List (high evidence)
PLCE1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 3 #610725
  • Congenital nephrotic syndrome/SRNS
Tags
Green Green List (high evidence)
PLCE1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 3 610725
Tags
Green Green List (high evidence)
PLCE1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 3 610725
Tags
Green Green List (high evidence)
PLVAP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Tags
Green Green List (high evidence)
PMM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
PMM2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Ia 212065
Tags
Green Green List (high evidence)
PODXL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital nephrotic syndrome
Tags
Green Green List (high evidence)
PODXL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Congenital nephrotic syndrome
Tags
Green Green List (high evidence)
REN
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile 2, 613092
  • Renal tubular dysgenesis 267430 AR
Tags
Green Green List (high evidence)
REN
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal Tubular Dysgenesis
  • [Hyperproreninemia]
Tags
Green Green List (high evidence)
REN
1 review
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Renal tubular dysgenesis MIM 267430
  • Familial juvenile Hyperuricemic nephropathy-2 MIM 613092
Tags
Green Green List (high evidence)
REN
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile 2 613092
  • Renal tubular dysgenesis 267430
  • [Hyperproreninemia]
Tags
Green Green List (high evidence)
REN
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Renal Tubular Dysgenesis
  • Renal tubular dysgenesis 267430
  • [Hyperproreninemia]
  • Hyperuricemic nephropathy, familial juvenile 2613092
Tags
Green Green List (high evidence)
RET
5 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Multiple endocrine neoplasia IIB, 162300
  • Central hypoventilation syndrome, congenital, 209880
  • Multiple endocrine neoplasia IIA, 171400
  • Renal agenesis, 191830
  • {Hirschsprung disease, susceptibility to, 1}, 142623
  • Pheochromocytoma, 171300
  • Renal Adysplasia
  • Medullary thyroid carcinoma, 155240
Tags
Green Green List (high evidence)
RET
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
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)
ROBO2
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Vesicoureteral reflux 2 610878
Tags
Green Green List (high evidence)
ROR2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Robinow syndrome, autosomal recessive 268310
Tags
Green Green List (high evidence)
RPGRIP1L
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome 7
  • Meckel syndrome 5
  • Joubert syndrome
  • Meckel syndrome
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
RPGRIP1L
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Meckel syndrome 5 611561
  • Ciliopathy genes associated with cystic kidney disease
  • COACH syndrome 216360
  • Joubert syndrome 7 611560
Tags
Green Green List (high evidence)
RPGRIP1L
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 7 611560
  • Meckel syndrome 5 611561
Tags
Green Green List (high evidence)
RRM2B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
Tags
Green Green List (high evidence)
RRM2B
5 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
Tags
Green Green List (high evidence)
SALL1
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • imperforate anus, ear abnormalities, thumb abnormalities
  • Townes-Brocks branchiootorenal-like syndrome, 107480
  • Townes-Brocks syndrome, 107480
Tags
Green Green List (high evidence)
SALL1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Townes-Brocks syndrome, 107480
  • Townes-Brocks branchiootorenal-like syndrome, 107480
Tags
Green Green List (high evidence)
SALL1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Townes-Brocks syndrome, 107480
  • Townes-Brocks branchiootorenal-like syndrome, 107480
  • imperforate anus, ear abnormalities, thumb abnormalities
Tags
Green Green List (high evidence)
SARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845
  • Progressive Spastic Paresis
Tags
Green Green List (high evidence)
SCARB2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Tags
Green Green List (high evidence)
SCARB2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Action myoclonus renal failure syndrome
  • Epilepsy, progressive myoclonic 4, with or without renal failure #254900
Tags
Green Green List (high evidence)
SCARB2
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Tags
Green Green List (high evidence)
SCNN1A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
  • ?Liddle syndrom 3, 618126
  • Bronchiectasis with or without elevated sweat chloride 2 613021
Tags
Green Green List (high evidence)
SCNN1B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 1 211400
  • Liddle syndrome, 177200
  • Pseudohypoaldosteronism, type I, 264350
Tags
Green Green List (high evidence)
SCNN1B
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Eligibility statement prior genetic testing
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
Tags
Green Green List (high evidence)
SCNN1G
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type I, 264350
Tags
Green Green List (high evidence)
SCNN1G
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Bronchiectasis with or without elevated sweat chloride 3, 613071
  • Liddle syndrome, 177200
  • Pseudohypoaldosteronism, type I, 264350
Tags
Green Green List (high evidence)
SDCCAG8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 16 615993
  • Senior-Loken syndrome 7 613615
Tags
Green Green List (high evidence)
SDCCAG8
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
Phenotypes
  • SENIOR-LOKEN SYNDROME
  • Bardet-Biedl Syndrome
  • 613615
  • Senior-Loken syndrome
Tags
Green Green List (high evidence)
SEC61A1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4 617056
Tags
Green Green List (high evidence)
SGPL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome 14 617575
Tags
Green Green List (high evidence)
SGPL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome 14 617575
Tags
Green Green List (high evidence)
SGPL1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome 14 617575
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)
SIX5
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Branchiootorenal syndrome 2, 610896
Tags
Green Green List (high evidence)
SIX5
1 review
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)
SLC12A1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios. Hyperprostagladinuria. Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis
  • Bartter syndrome, type 1, 601678
Tags
Green Green List (high evidence)
SLC12A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Type 1 Bartter syndrome: infantile onset, pregnancy noted for polyhydramnios
  • Hyperprostagladinuria
  • Hypokalaemia and metabolic alkalosis +/- nephrocalcinosis
  • Antenatal Bartter Syndrome
  • Bartter syndrome, type 1, 601678
Tags
Green Green List (high evidence)
SLC12A3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypokalaemic alkalosis with hypomagnesaemia & hypocalciuria
  • Gitelman syndrome, 263800
Tags
Green Green List (high evidence)
SLC22A12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Hypouricemia, renal, 220150
Tags
Green Green List (high evidence)
SLC22A12
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypouricemia, renal, 220150
Tags
Green Green List (high evidence)
SLC22A12
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypouricemia, renal, 220150
Tags
Green Green List (high evidence)
SLC2A9
3 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Hypouricemia, renal, 2, 612076
Tags
Green Green List (high evidence)
SLC2A9
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • {Uric acid concentration, serum, QTL 2}, 612076
  • Hypouricemia, renal, 2, 612076
Tags
Green Green List (high evidence)
SLC2A9
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypouricemia, renal, 2, 612076
  • {Uric acid concentration, serum, QTL 2}, 612076
Tags
Green Green List (high evidence)
SLC34A1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
  • Hypophosphatemic Nephrolithiasis/Osteoporosis
  • Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive)
  • Nephrolithiasis with osteoporosis and hypophosphatemia
  • Nephrolithiasis with osteoporosis and hypophosphatemia
Tags
Green Green List (high evidence)
SLC34A3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypophosphatemic rickets with hypercalciuria, 241530
  • HHRH
  • recent publication added nephrolithiasis.
Tags
Green Green List (high evidence)
SLC3A1
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cystinuria 220100
Tags
Green Green List (high evidence)
SLC3A1
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • Cystinuria 220100
Tags
Green Green List (high evidence)
SLC4A1
4 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Distal Renal Tubular Acidosis, Dominant
  • Ovalocytosis
  • Distal renal tubular acidosis
  • Renal tubular acidosis, distal, AD,179800
  • Renal tubular acidosis, distal, AR, 611590
  • Cryohydrocytosis, 185020
  • Ovalocystois, SA type 166900
  • Spherocytoisis type 4, 612653
  • various blood group associations.
Tags
Green Green List (high evidence)
SLC4A1
2 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • distal renal tubular acidosis
  • Renal tubular acidosis, distal, AD, 179800
  • Renal tubular acidosis, distal, AR 611590
Tags
Green Green List (high evidence)
SLC4A4
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal tubular acidosis, proximal, with ocular abnormalities, 604278
  • Proximal Renal Tubular Acidosis with Ocular Abnormalities
  • Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive).
Tags
Green Green List (high evidence)
SLC5A2
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Renal glucosuria, 233100
Tags
Green Green List (high evidence)
SLC7A9
2 reviews
1 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
Phenotypes
  • Cystinuria 220100
Tags
Green Green List (high evidence)
SLC7A9
1 review
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cystinuria 220100
Tags
Green Green List (high evidence)
SMARCAL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Tags
Green Green List (high evidence)
SMARCAL1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Schimke immunoosseous dysplasia #242900
Tags
Green Green List (high evidence)
SMARCAL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schimke immunoosseous dysplasia 242900
Tags
Green Green List (high evidence)
STRA6
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Microphthalmia, syndromic 9, MIM# 601186
Tags
Green Green List (high evidence)
STRADA
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087
Tags
Green Green List (high evidence)
TBC1D1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • CAKUT
Tags
Green Green List (high evidence)
TBC1D8B
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 20, OMIM:301028
Tags
Green Green List (high evidence)
TBC1D8B
3 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 20, OMIM:301028
Tags
Green Green List (high evidence)
TBX18
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Congenital anomalies of kidney and urinary tract 2 143400
Tags
Green Green List (high evidence)
TBX18
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Congenital anomalies of kidney and urinary tract 2 143400
Tags
Green Green List (high evidence)
TBX18
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CAKUT
  • Renal cysts and diabetes
  • glomerulocystic kidney disease
  • hypomagneseamia
  • Congenital anomalies of kidney and urinary tract 2, 143400
Tags
Green Green List (high evidence)
TCTN1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Joubert syndrome
Tags
Green Green List (high evidence)
TCTN1
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 13 614173
Tags
Green Green List (high evidence)
TCTN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Meckel syndrome
  • Joubert syndrome, Meckel-Gruber syndrome
  • Joubert syndrome 24
Tags
Green Green List (high evidence)
TCTN2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 24
  • Joubert syndrome, Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
TCTN3
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 18 614815
Tags
Green Green List (high evidence)
TCTN3
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Orofaciodigital syndrome IV
  • Joubert syndrome 18
  • Meckel-Gruber
  • Mohr-Majewski syndrome
Tags
Green Green List (high evidence)
TFAP2A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Branchiooculofacial syndrome, MIM# 113620
Tags
Green Green List (high evidence)
TMEM107
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • ?Joubert syndrome 29 617562
  • Meckel syndrome 13 617562
  • Orofaciodigital syndrome XVI 617563
Tags
Green Green List (high evidence)
TMEM107
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Meckel syndrome 13 617562
  • ?Joubert syndrome 29 617562
  • Orofaciodigital syndrome XVI 617563
Tags
Green Green List (high evidence)
TMEM138
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 16 614465
Tags
Green Green List (high evidence)
TMEM138
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 16
Tags
Green Green List (high evidence)
TMEM216
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome: Meckel-Gruber syndrome
  • Joubert syndrome with oculorenal defect
  • Meckel syndrome
  • Joubert syndrome 2
Tags
Green Green List (high evidence)
TMEM216
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 2 608091
  • Meckel syndrome 2 603194
Tags
Green Green List (high evidence)
TMEM231
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome
  • Joubert syndrome 20
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 20, 614970
  • Meckel syndrome 11, 615397
Tags
Green Green List (high evidence)
TMEM231
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 20 614970
  • Meckel syndrome 11 615397
Tags
Green Green List (high evidence)
TMEM237
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome 14 614424
Tags
Green Green List (high evidence)
TMEM237
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Expert Review Green
  • Expert list
  • Other
Phenotypes
  • Joubert syndrome
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 14
Tags
Green Green List (high evidence)
TMEM67
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Joubert syndrome 6 610688
  • Nephronophthisis 11 613550
  • Meckel syndrome 3 607361
  • Ciliopathy genes associated with cystic kidney disease
  • {Bardet-Biedl syndrome 14, modifier of} 615991
  • COACH syndrome 216360
Tags
Green Green List (high evidence)
TMEM67
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?RHYNS syndrome MIM 602152
  • COACH syndrome 216360 AR 3
  • {Bardet-Biedl syndrome 14, modifier of} MIM 615991
  • ?RHYNS syndrome 602152 AR 3
  • COACH syndrome, MIM 216306
  • Joubert syndrome 6, MIM 610688
  • Nephronopthisis 11 MIM 613550
  • Meckel syndrome 3, MIM 607361
Tags
Green Green List (high evidence)
TMEM67
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • COACH syndrome 216360
  • Joubert syndrome 6 610688
  • Meckel syndrome 3 607361
  • Nephronophthisis 11 613550
  • {Bardet-Biedl syndrome 14, modifier of} 615991
Tags
Green Green List (high evidence)
TMEM67
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
  • Other
Phenotypes
  • Joubert syndrome
  • nephronophthisis
  • COACH syndrome
  • Joubert syndrome 6
  • ?Bardet-Biedl syndrome?
  • Senior-Boichis syndrome
  • 613550
  • 607361
  • Meckel-Gruber syndrome
  • Meckel syndrome
  • 610688
  • Nephronophthisis 11
  • 216360
Tags
Green Green List (high evidence)
TMEM67
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
TNS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • nephrotic syndrome
Tags
Green Green List (high evidence)
TNS2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • nephrotic syndrome
Tags
Green Green List (high evidence)
TP53RK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 4 #617730
Tags
Green Green List (high evidence)
TP53RK
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 4 #617730
Tags
Green Green List (high evidence)
TRAF3IP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Senior-Loken syndrome 9 616629
Tags
Green Green List (high evidence)
TRAF3IP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
Phenotypes
  • Senior-Loken syndrome 9 616629
Tags
Green Green List (high evidence)
TRAP1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
  • VACTERL 192350
Tags
Green Green List (high evidence)
TRAP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • CAKUT
  • VACTERL 192350
Tags
Green Green List (high evidence)
TRAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Tags
Green Green List (high evidence)
TRIM8
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • nephrotic syndrome
  • epilepsy
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
Tags
Green Green List (high evidence)
TRPC6
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 2 #603652
  • Proteinuria
  • FSGS
  • kidney failure
  • Familial and sporadic SRNS (adult)
Tags
Green Green List (high evidence)
TRPC6
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 2 603965
Tags
Green Green List (high evidence)
TRPC6
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Glomerulosclerosis, focal segmental, 2 603965
Tags
Green Green List (high evidence)
TRPM6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Hypomagnesemia 1, intestinal, 602014
Tags
Green Green List (high evidence)
TSC1
5 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis-1 191100
Tags
Green Green List (high evidence)
TSC1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
Tags
Green Green List (high evidence)
TSC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert
Phenotypes
  • Tuberous sclerosis-1 191100
Tags
Green Green List (high evidence)
TSC2
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis-2 613254
Tags
Green Green List (high evidence)
TSC2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
Tags
Green Green List (high evidence)
TSC2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Expert
Phenotypes
  • Tuberous sclerosis-2 613254
Tags
Green Green List (high evidence)
TTC21B
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 12, 613820
  • Short-rib thoracic dysplasia 4 with or without polydactyly
  • Jeune syndrome
  • Short-rib thoracic dysplasia 4 with or without polydactyly, 613819
  • Nephronophthisis
Tags
Green Green List (high evidence)
TTC21B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert
Phenotypes
  • Nephronophthisis 12 613820
Tags
Green Green List (high evidence)
TTC21B
4 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephronophthisis 12 613820
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
TTC21B
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 4 with or without polydactyly, MIM 613819
  • Nephronopthisis 12 MIM 613820
Tags
Green Green List (high evidence)
TTC21B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Green Green List (high evidence)
TTC8
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert list
  • Expert Review Green
Phenotypes
  • Bardet Biedl syndrome 8
Tags
Green Green List (high evidence)
TTC8
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Bardet-Biedl syndrome 8 615985
Tags
Green Green List (high evidence)
TTR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
Tags
  • treatable
Green Green List (high evidence)
TXNDC15
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • MGS
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
TXNDC15
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MGS
  • Meckel-Gruber syndrome
Tags
Green Green List (high evidence)
UMOD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Medullary Cystic Kidney Disease 2
  • Hyperuricemic nephropathy, familial juvenile 1, 162000
Tags
Green Green List (high evidence)
UMOD
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Expert list
  • Eligibility statement prior genetic testing
  • Expert Review
Phenotypes
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
  • Hyperuricemic nephropathy, familial juvenile 1 162000
  • Medullary cystic kidney disease 2 603860
Tags
Green Green List (high evidence)
UMOD
6 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
  • Uromodulin-associated kidney disease
  • Hyperuricemic nephropathy, familial juvenile 1 162000
  • Medullary cystic kidney disease 2 603860
  • Medullary Cystic Kidney Disease 2
  • Hyperuricemic nephropathy, familial juvenile 1, 162000
Tags
Green Green List (high evidence)
UMOD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile 1, 162000
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886
  • Medullary cystic kidney disease 2, 603860
Tags
Green Green List (high evidence)
UMOD
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Medullary cystic kidney disease 2 MIM 603860
  • Familial juvenile hyperuricemic nephropathy 1 MIM 162000
Tags
Green Green List (high evidence)
VHL
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
Tags
Green Green List (high evidence)
VHL
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
  • Expert
Phenotypes
  • von Hippel-Lindau syndrome 193300
Tags
Green Green List (high evidence)
VHL
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome 193300
Tags
Green Green List (high evidence)
VIPAS39
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Tags
Green Green List (high evidence)
VPS33B
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1 208085
Tags
Green Green List (high evidence)
VPS33B
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
  • Arthrogryposis, renal dysfunction, and cholestasis 1
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
  • Arthrogryposis, renal dysfunction, and cholestasis
Tags
Green Green List (high evidence)
WBP11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227
Tags
Green Green List (high evidence)
WDPCP
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • Meckel syndrome
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags
Green Green List (high evidence)
WDPCP
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • ?Bardet-Biedl syndrome 15 615992
Tags
Green Green List (high evidence)
WDR19
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nephronophthisis 13
  • Ciliopathy genes associated with cystic kidney disease
  • Senior-Loken
Tags
Green Green List (high evidence)
WDR19
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 13, 614377
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly
  • Senior-Loken syndrome 8, 616307
  • Cranioectodermal dysplasia
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
  • Jeune syndrome
  • Senior-Loken syndrome
  • ?Cranioectodermal dysplasia 4, 614378
  • Nephronophthisis
Tags
Green Green List (high evidence)
WDR19
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Nephronophthisis 13, Senior-Loken
Tags
Green Green List (high evidence)
WDR19
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nephronopthisis 13 MIM 614377
  • ?Cranioectodermal dysplasia 4, MIM 614378
  • ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376
  • Senior-Loken syndrome 8, MIM 616307
Tags
Green Green List (high evidence)
WDR35
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 7 with or without polydactyly
  • Cranioectodermal dysplasia 2, 613610
  • Cranioectodermal dysplasia
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Tags
Green Green List (high evidence)
WDR35
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Cranioectodermal dysplasia 2, 613610
  • Cranioectodermal dysplasia
  • Short-rib thoracic dysplasia 7 with or without polydactyly
  • Short-rib thoracic dysplasia 7 with or without polydactyly, 614091
Tags
Green Green List (high evidence)
WDR60
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
  • SHORT-RIB POLYDACTYLY
  • Short-rib thoracic dysplasia 8 with or without polydactyly
  • Jeune syndrome
Tags
  • new-gene-name
Green Green List (high evidence)
WDR60
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Green
Phenotypes
  • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
  • Short-rib thoracic dysplasia 8 with or without polydactyly
  • Jeune syndrome
  • SHORT-RIB POLYDACTYLY
Tags
  • new-gene-name
Green Green List (high evidence)
WDR73
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 1 #251300
Tags
Green Green List (high evidence)
WDR73
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 1 #251300
Tags
Green Green List (high evidence)
WNK1
2 reviews
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, 201300
  • Pseudohypoaldosteronism, type IIC, 614492
Tags
Green Green List (high evidence)
WNK4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type IIB, 614491
Tags
Green Green List (high evidence)
WNK4
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Pseudohypoaldosteronism, type IIB, 614491
Tags
Green Green List (high evidence)
WT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 4 256370
Tags
Green Green List (high evidence)
WT1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Denys-Drash syndrome #194080
  • Frasier syndrome #136680
  • Wilms tumor, type 1 #194070
Tags
Green Green List (high evidence)
WT1
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 4 256370
Tags
Green Green List (high evidence)
XDH
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Xanthinuria, type I, 278300
Tags
Green Green List (high evidence)
XDH
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Xanthinuria, type I, 278300
Tags
Green Green List (high evidence)
ZIC3
2 reviews
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • VACTERL association, X-linked, MIM# 314390
Tags
Green Green List (high evidence)
ZMYM2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • CAKUT
  • Abnormality of the urinary system
  • Global developmental delay
  • Intellectual disability
  • Microcephaly
  • Abnormality of the cardiovascular system
  • Autism
  • Seizures
  • Abnormality of the head or neck
  • Abnormality of the nail
  • Small hand
  • Short foot
  • Clinodactyly
Tags
Amber Amber List (moderate evidence)
ADAMTS13
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Tags
  • for-review
Amber Amber List (moderate evidence)
ADAMTS9
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Nephronophthisis-Related Ciliopathy (no OMIM number yet)
Tags
Amber Amber List (moderate evidence)
ADAMTS9
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Nephronophthisis-Related Ciliopathy
Tags
Amber Amber List (moderate evidence)
ALG8
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • cystic liver disease
  • cystic kidney disease
  • Polycystic liver disease 3 with or without kidney cysts, 617874
Tags
  • for-review
Amber Amber List (moderate evidence)
ALG9
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • cystic liver disease
  • cystic kidney disease
  • Gillessen-Kaesbach-Nishimura syndrome, 263210
Tags
  • for-review
Amber Amber List (moderate evidence)
AMN
5 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia-1, Norwegian type, 261100
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
  • for-review
Amber Amber List (moderate evidence)
ANLN
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Focal segmental glomerulosclerosis 8 616032
Tags
Amber Amber List (moderate evidence)
APOC3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
APOE
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lipoprotein glomerulopathy, MIM# 611771
Tags
  • for-review
Amber Amber List (moderate evidence)
APOL1
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Eligibility statement prior genetic testing
Phenotypes
  • {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551
  • {End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551
Tags
  • for-review
Amber Amber List (moderate evidence)
APRT
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • interstitial nephritis
  • chronic kidney disease
  • end stage renal disease
  • nephrolithiaisis
  • Adenine phosphoribosyltransferase deficiency 614723
Tags
Amber Amber List (moderate evidence)
APRT
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • interstitial nephritis
  • chronic kidney disease
  • end stage renal disease
  • nephrolithiaisis
  • Adenine phosphoribosyltransferase deficiency 614723
Tags
Amber Amber List (moderate evidence)
B2M
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • ?Amyloidosis, familial visceral 105200
Tags
Amber Amber List (moderate evidence)
BBIP1
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 18, 615995
Tags
Amber Amber List (moderate evidence)
BMP4
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • CAKUT
  • renal maldevelopment
  • congenital renal dysplasia
  • Congenital Anomaly of the Kidneys and Urinary Tract
Tags
Amber Amber List (moderate evidence)
CACNA1H
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperaldosteronism, familial, type IV 617027
  • {Epilepsy, childhood absence, susceptibility to, 6} 611942
  • {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
Tags
Amber Amber List (moderate evidence)
CD151
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness 609057
Tags
Amber Amber List (moderate evidence)
CD151
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness 609057
Tags
Amber Amber List (moderate evidence)
CD151
6 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
  • nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, MONDO:0012190
Tags
  • for-review
  • Q3_21_NHS_review
Amber Amber List (moderate evidence)
CD2AP
4 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Eligibility statement prior genetic testing
Phenotypes
  • Glomerulosclerosis, focal segmental, 3 #607832
Tags
Amber Amber List (moderate evidence)
CENPF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Stromme syndrome, 243605
  • bilateral renal hypoplasia
  • Duodenal atresia
  • Hydronephrosis
Tags
Amber Amber List (moderate evidence)
CEP290
4 reviews
2 green
Not set
Sources
  • Expert Review Amber
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Amber Amber List (moderate evidence)
CEP55
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Meckel-like syndrome
  • autosomal recessive lethal ciliopathy
  • renal dysplasia
Tags
Amber Amber List (moderate evidence)
CFHR5
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Nephropathy due to CFHR5 deficiency, MIM# 614809
Tags
Amber Amber List (moderate evidence)
CFHR5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review
  • Literature
Phenotypes
  • Nephropathy due to CFHR5 deficiency OMIM:614809
Tags
Amber Amber List (moderate evidence)
CLCNKA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Bartter syndrome, type 4b, digenic 613090
Tags
Amber Amber List (moderate evidence)
CLDN10
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number)
  • HELIX syndrome, 617671
Tags
  • for-review
Amber Amber List (moderate evidence)
COL4A4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Cystic kidney disease, MONDO:0002473
Tags
  • for-review
Amber Amber List (moderate evidence)
CST3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cerebral amyloid angiopathy 105150
Tags
Amber Amber List (moderate evidence)
DAAM2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • steroid-resistant nephrotic syndrome MONDO:0044765
Tags
  • for-review
Amber Amber List (moderate evidence)
DCDC2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Sclerosing cholangitis, neonatal MIM 617394
  • ?Deafness, autosomal recessive 66 MIM 610212
  • Nephronopthisis 19 MIM 616217
Tags
Amber Amber List (moderate evidence)
DCDC2
7 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Orphanet
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neonatal sclerosing cholangitis
  • Nephronophthisis 19, 616217
Tags
Amber Amber List (moderate evidence)
DGKE
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephrotic syndrome, type 7 #615008
Tags
  • for-review
Amber Amber List (moderate evidence)
DLG5
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations
Tags
  • for-review
  • Q3_21_NHS_review
Amber Amber List (moderate evidence)
DNAJB11
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease MIM 618061
  • Tubulointerstitial disease
Tags
  • for-review
Amber Amber List (moderate evidence)
EHHADH
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert
Phenotypes
  • ?Fanconi renotubular syndrome 3, OMIM:615605
  • L-bifunctional protein deficiency
  • Metabolic acidosis
  • Increased amino acids in urine
Tags
Amber Amber List (moderate evidence)
EXOC3L2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dandy-Walker malformation
  • renal dysplasia
  • bone marrow failure
Tags
  • watchlist
Amber Amber List (moderate evidence)
FGF20
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • ?Renal hypodysplasia/aplasia 2, 615721
Tags
Amber Amber List (moderate evidence)
FLCN
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
  • Literature
Phenotypes
  • Birt-Hogg-Dube syndrome, OMIM:135150
  • renal cysts
  • cutaneous fibrofolliculoma
  • pneumothorax
  • pulmonary cysts
  • renal cell carcinoma
  • renal oncocytoma
Tags
  • Q2_21_rating
Amber Amber List (moderate evidence)
FN1
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Glomerulopathy with fibronectin deposits 2, 601894
Tags
  • for-review
Amber Amber List (moderate evidence)
FOXI1
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
  • Expert Review
Phenotypes
  • deafness
  • renal tubular acidosis
  • Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number)
  • Enlarged vestibular aqueducts, 6007910
Tags
Amber Amber List (moderate evidence)
FXYD2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Hypomagnesemia 2, renal, 154020
Tags
Amber Amber List (moderate evidence)
GLA
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Fabry disease 301500
Tags
Amber Amber List (moderate evidence)
GLIS2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Nephronopthisis 7 MIM 611498
Tags
Amber Amber List (moderate evidence)
GLIS2
4 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
  • UKGTN
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis
  • NPHP
  • Nephronophthisis 7, 611498
Tags
Amber Amber List (moderate evidence)
GNAS
1 review
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities.
Tags
Amber Amber List (moderate evidence)
GON7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Galloway-Mowat syndrome MONDO:0009627
Tags
  • for-review
  • founder-effect
Amber Amber List (moderate evidence)
HNF4A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026
Tags
  • for-review
Amber Amber List (moderate evidence)
HNF4A
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026
Tags
  • for-review
Amber Amber List (moderate evidence)
HS2ST1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • dysmorphic features
  • congenital anomalies
Tags
  • watchlist
Amber Amber List (moderate evidence)
IFT140
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM #266920 (aka Mainzer-Saldino syndrome)
Tags
  • for-review
Amber Amber List (moderate evidence)
IFT172
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Tags
  • for-review
Amber Amber List (moderate evidence)
IFT27
6 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • ?Bardet-Biedl syndrome 19, 615996
Tags
  • for-review
Amber Amber List (moderate evidence)
KANK2
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Literature
Phenotypes
  • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
  • Nephrotic syndrome 16 #617783
Tags
Amber Amber List (moderate evidence)
KIF14
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Orphanet
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • Meckel syndrome 12, OMIM:616258
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
Tags
  • watchlist
Amber Amber List (moderate evidence)
KIRREL1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • steroid-resistant nephrotic syndrome MONDO:0044765
Tags
Amber Amber List (moderate evidence)
LAMA5
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Nephrotic syndrome
Tags
Amber Amber List (moderate evidence)
LCAT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review
Phenotypes
  • Norum disease, OMIM:245900
  • Norum disease, MONDO:0009515
  • LCAT DEFICIENCY
Tags
  • Q4_21_rating
Amber Amber List (moderate evidence)
MOCOS
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Xanthinuria, type II, OMIM:603592
Tags
  • Q3_21_NHS_review
  • Q3_21_rating
Amber Amber List (moderate evidence)
NEK1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520
Tags
  • watchlist
Amber Amber List (moderate evidence)
NLRP3
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Muckle-Wells syndrome, 191900
  • AA amyloidosis
  • renal amyloidosis
Tags
  • for-review
Amber Amber List (moderate evidence)
PTPRO
4 reviews
1 green
Not set
Sources
  • Expert Review Amber
  • NHS GMS
  • Eligibility statement prior genetic testing
Phenotypes
  • Nephrotic syndrome, type 6 #614196
Tags
Amber Amber List (moderate evidence)
SALL4
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Duane-radial ray syndrome, 607323
Tags
Amber Amber List (moderate evidence)
SARS2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis 613845
  • Progressive Spastic Paresis
Tags
  • for-review
Amber Amber List (moderate evidence)
SCLT1
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Orofaciodigital syndrome type IX
  • Senior-Loken syndrome
Tags
Amber Amber List (moderate evidence)
SEC61A1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • glomerulocystic kidney disease
  • interstitial nephritis
  • chronic kidney disease
  • cystic kidney disease
  • Hyperuricemic nephropathy, familial juvenile, 4, 617056
Tags
Amber Amber List (moderate evidence)
SEC61A1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Familial juvenile Hyperuricemic nephropathy-4 MIM 617056
Tags
  • for-review
Amber Amber List (moderate evidence)
SLC26A1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Nephrolithiasis, calcium oxalate, MIM#167030
Tags
Amber Amber List (moderate evidence)
SLC2A2
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Fanconi-Bickel syndrome, MIM# 227810
Tags
  • for-review
Amber Amber List (moderate evidence)
SLC9A3R1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287
Tags
Amber Amber List (moderate evidence)
SLIT2
3 reviews
1 green 1 red
Not set
Sources
  • Expert Review Amber
  • Expert list
Tags
Amber Amber List (moderate evidence)
TMEM260
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • Structural heart defects and renal anomalies syndrome, OMIM:617478
  • Structural heart defects and renal anomalies syndrome, MONDO:0044321
Tags
  • Q4_21_rating
Amber Amber List (moderate evidence)
TPRKB
3 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Galloway-Mowat syndrome 5 #617731
Tags
  • for-review
Amber Amber List (moderate evidence)
TRIM8
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • nephrotic syndrome
  • epilepsy
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
Tags
  • Q4_21_rating
Amber Amber List (moderate evidence)
TRIM8
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • nephrotic syndrome
  • epilepsy
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
Tags
  • Q4_21_rating
Amber Amber List (moderate evidence)
VIPAS39
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2 #613404
Tags
  • for-review
Amber Amber List (moderate evidence)
VIPAS39
5 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Tags
  • for-review
Amber Amber List (moderate evidence)
VIPAS39
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Tags
  • for-review
Amber Amber List (moderate evidence)
VPS33B
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
Tags
  • for-review
Amber Amber List (moderate evidence)
VPS33B
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 1 #208085
Tags
  • for-review
Amber Amber List (moderate evidence)
WDR72
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • distal RTA
  • hereditary distal renal tubular acidosis
Tags
Amber Amber List (moderate evidence)
WNK1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Pseudohypoaldosteronism, type IIC, 614492
Tags
Amber Amber List (moderate evidence)
WNT5A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Robinow syndrome, autosomal dominant 1, MIM#180700
Tags
Amber Amber List (moderate evidence)
XPNPEP3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Nephronopthisis-like nephropathy 1 MIM 613159
Tags
Amber Amber List (moderate evidence)
YRDC
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Galloway-Mowat syndrome
Tags
  • for-review
Amber Amber List (moderate evidence)
ZNF423
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • Expert Review Amber
  • Expert list
  • Other
  • Emory Genetics Laboratory
Phenotypes
  • Nephronophthisis 14
  • Joubert syndrome 19, 614844
  • Joubert syndrome with oculorenal defect
  • Joubert syndrome 19
  • Nephronophthisis 14, 614844
Tags
Amber Amber List (moderate evidence)
ZNF423
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Joubert syndrome 19 MIM 614844
  • Nephronopthisis 14
Tags
Red Red List (low evidence)
ABCG2
1 review
1 red
Unknown
Sources
  • NHS GMS
Phenotypes
  • Serum uric acid concentration and susceptibility to gout, 138900
Tags
Red Red List (low evidence)
ACTA2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • Multi system smooth muscle dysfunction
Tags
Red Red List (low evidence)
ACTA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Multi system smooth muscle dysfunction
Tags
Red Red List (low evidence)
ACTA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Multi system smooth muscle dysfunction
Tags
Red Red List (low evidence)
ADCY10
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
Tags
Red Red List (low evidence)
AGK
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hyperoxaluria, primary, type 1, 259900
Tags
Red Red List (low evidence)
AGT
1 review
Unknown
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Hypertension, essential, susceptibility to}, 145500
  • {Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
Tags
Red Red List (low evidence)
AGTR1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypertension, essential, 145500
  • Renal tubular dysgenesis, 267430
Tags
Red Red List (low evidence)
AHI1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • Joubert syndrome-3 608629
Tags
Red Red List (low evidence)
AHI1
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ALG1
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ALG1
3 reviews
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Congenital disorder of glycosylation, type Ik #608540
Tags
Red Red List (low evidence)
ALG1
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Tags
Red Red List (low evidence)
ALMS1
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Tags
Red Red List (low evidence)
ALMS1
3 reviews
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Alstrom Syndrome #203800
Tags
Red Red List (low evidence)
ANKFY1
1 review
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
ANOS1
4 reviews
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
Tags
Red Red List (low evidence)
AP2S1
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypocalciuric hypercalcemia, familial, type III, 600740
  • Familial hypocalciuric hypercalcemia type III
Tags
Red Red List (low evidence)
APOL1
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
APOL1
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Tags
Red Red List (low evidence)
ARHGAP24
3 reviews
1 red
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Focal segmental glomerulosclerosis
Tags
Red Red List (low evidence)
ARHGAP24
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Tags
Red Red List (low evidence)
ARHGAP24
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ARL13B
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ARL13B
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ARL6
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ARL6
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
B9D1
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Orphanet
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
  • Other
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Meckel syndrome 9, OMIM:614209
  • Meckel syndrome 9, MONDO:0013630
  • Joubert syndrome 27, OMIM:617120
  • Joubert syndrome 27, MONDO:0014927
Tags
Red Red List (low evidence)
BBS1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS1
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS10
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS10
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS12
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS12
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS2
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS2
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS4
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS4
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS5
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS5
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS9
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BBS9
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
BICC1
4 reviews
3 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to}, 601331
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)
BICC1
0 reviews
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
0 reviews
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
BMP4
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
BMP7
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • CAKUT
Tags
Red Red List (low evidence)
BMPR2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Pulmonary venoocclusive disease 1, 265450
Tags
Red Red List (low evidence)
BSND
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • Bartter syndrome, type 4a, 602522
  • Sensorineural deafness with mild renal dysfunction, 602522
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)
C5orf42
3 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
  • new-gene-name
Red Red List (low evidence)
C5orf42
1 review
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
  • new-gene-name
Red Red List (low evidence)
C8orf37
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Bardet-Biedl syndrome 21, 617406
Tags
Red Red List (low evidence)
CAV1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lipodystrophy, congenital generalized, type 3, 612526
  • Pulmonary hypertension, primary, 3, 615343
Tags
Red Red List (low evidence)
CC2D2A
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CC2D2A
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CCDC28B
3 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Red
  • Expert list
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ciliopathies
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
Tags
Red Red List (low evidence)
CCDC28B
3 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CCDC28B
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CCDC28B
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CD2AP
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CD2AP
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Tags
Red Red List (low evidence)
CD46
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Haemolytic uraemic syndrome
  • aHUS
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922
  • C3 glomerulopathy
  • C3G
  • Immune complex MPGN
  • IC-MPGN
Tags
Red Red List (low evidence)
CDK20
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Chronic kidney disease
Tags
Red Red List (low evidence)
CEP290
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CEP41
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CEP41
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
CFHR4
2 reviews
2 red
Unknown
Sources
  • Other
Phenotypes
  • Age related macular degeneration
  • Atypical hemolytic uremic syndrome susceptibility
Tags
Red Red List (low evidence)
CFHR5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
  • Literature
Phenotypes
  • Haematuria
  • C3 glomerulopathy
  • kidney failure
  • macroscopic haematuria
Tags
Red Red List (low evidence)
CHD1L
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • ORPHA93545
  • Renal or urinary tract malformation (CAKUT)
Tags
Red Red List (low evidence)
CHD1L
4 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Renal or urinary tract malformation (CAKUT)
  • ORPHA93545
Tags
  • missense
Red Red List (low evidence)
CHRM3
4 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • Low pressure congenital megabladder
  • Prune Belly-Like Syndrome
Tags
Red Red List (low evidence)
CHRM3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Prune Belly-Like Syndrome
  • Low pressure congenital megabladder
Tags
Red Red List (low evidence)
CHRM3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Prune Belly-Like Syndrome
  • Low pressure congenital megabladder
Tags
Red Red List (low evidence)
CLCN5
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Dent disease, 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990
Tags
Red Red List (low evidence)
CLCNKA
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bartter syndrome, type 4b, digenic, 613090
Tags
Red Red List (low evidence)
COL4A1
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773
Tags
Red Red List (low evidence)
COL4A5
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Other
Phenotypes
  • cystic kidney disease MONDO:0002473
Tags
Red Red List (low evidence)
COL4A6
3 reviews
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • (originally on Alport syndrome gene panel)
Tags
Red Red List (low evidence)
COL4A6
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Red
Phenotypes
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • (originally on Alport syndrome gene panel)
Tags
Red Red List (low evidence)
COL4A6
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • (originally on Alport syndrome gene panel)
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5
  • diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
  • Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
Tags
Red Red List (low evidence)
COQ7
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • ?Coenzyme Q10 deficiency, primary, 8 #616733
Tags
Red Red List (low evidence)
COQ9
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5 #614654
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)
COX10
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
Tags
Red Red List (low evidence)
COX10
0 reviews
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)
CPS1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Carbamoylphosphate synthetase I deficiency, 237300
  • {Pulmonary hypertension, neonatal, susceptibility to}, 615371
  • {Venoocclusive disease after bone marrow transplantation}
Tags
Red Red List (low evidence)
CYP11B2
3 reviews
1 red
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Hypoaldosteronism, congenital, due to CMO I deficiency #203400
  • Hypoaldosteronism, congenital, due to CMO II deficiency #610600
Tags
Red Red List (low evidence)
CYP11B2
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CYP11B2
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Tags
Red Red List (low evidence)
CYP21A2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910
Tags
Red Red List (low evidence)
DACT1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Literature
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
Tags
  • watchlist
Red Red List (low evidence)
DACT1
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
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)
DHFR
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
DHFR
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
DHFR
2 reviews
2 red
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
DKC1
2 reviews
2 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • steroid-resistant 6 nephrotic syndrome
  • cataracts (prior to steroid treatment)
  • sensorineural deafness
  • enterocolitis
Tags
Red Red List (low evidence)
DLG3
1 review
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
DLG3
0 reviews
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
DLG3
2 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
E2F3
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
E2F3
3 reviews
2 red
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • FSGS
  • mental retardation
Tags
Red Red List (low evidence)
E2F3
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Tags
Red Red List (low evidence)
EGF
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Hypomagnesemia 4, renal, 611718
Tags
Red Red List (low evidence)
EXOC3L2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert Review Red
  • Expert list
Phenotypes
  • Dandy-Walker malformation
  • enlarged echogenic kidneys
  • echogenic kidneys
  • hydrocephalus
  • anhydramnios
Tags
Red Red List (low evidence)
EXOC8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • No OMIM phenotype
  • Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
Tags
Red Red List (low evidence)
FGF23
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Tags
  • watchlist
Red Red List (low evidence)
FOXC1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
FOXC1
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
FOXC2
0 reviews
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
FOXC2
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXD2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Tags
  • watchlist
Red Red List (low evidence)
GAPVD1
1 review
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
GDNF
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
GDNF
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
GDNF
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
GIF
3 reviews
2 red
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Imerslund-Grasbeck syndrome eligibility statement prior genetic testing
Phenotypes
  • GIF mutations may phenocopy this disorder
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
  • new-gene-name
Red Red List (low evidence)
GIF
1 review
Not set
Sources
  • Imerslund-Grasbeck syndrome eligibility statement prior genetic testing
Phenotypes
  • GIF mutations may phenocopy this disorder
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
  • new-gene-name
Red Red List (low evidence)
GIF
2 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • GIF mutations may phenocopy this disorder
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
  • new-gene-name
Red Red List (low evidence)
GLA
2 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • Expert
Tags
Red Red List (low evidence)
GLIS2
3 reviews
1 green
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
GLIS2
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
GLIS2
0 reviews
Not set
Sources
  • Expert
  • Expert Review Red
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
GNA11
1 review
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypocalciuric hypercalcemia, type II, 145981
Tags
Red Red List (low evidence)
GREM1
0 reviews
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
GREM1
3 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
GREM1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
HCN3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
HCN3
0 reviews
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
HCN3
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
IFT74
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Bardet-Biedl syndrome 20, 617119
Tags
Red Red List (low evidence)
IL1RAP
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Steroid-sensitive nephrotic syndrome
Tags
Red Red List (low evidence)
INF2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
Phenotypes
  • Charcot-Marie-Tooth disease, dominant intermediate E, 614455
  • Glomerulosclerosis, focal segmental, 5, 613237
Tags
Red Red List (low evidence)
INPP5E
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
INPP5E
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
IQCB1
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
IQCB1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
ISL1
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • CAKUT
Tags
Red Red List (low evidence)
ITGB4
1 review
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ITGB4
0 reviews
Not set
Sources
  • Eligibility statement prior genetic testing
Tags
Red Red List (low evidence)
ITGB4
3 reviews
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis #226730
Tags
Red Red List (low evidence)
ITSN2
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Early childhood SSNS
Tags
Red Red List (low evidence)
KANK1
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Steroid sensitive resistant nephrotic syndrome
Tags
Red Red List (low evidence)
KANK2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Tags
Red Red List (low evidence)
KANK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Tags
Red Red List (low evidence)
KANK4
1 review
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
KCNA1
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • Autosomal dominant hypomagnesemia
  • Episodic ataxia/myokymia syndrome,160120
Tags
Red Red List (low evidence)
KCNK3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Pulmonary hypertension, primary, 4, 615344
Tags
Red Red List (low evidence)
KIAA0556
5 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • ?Joubert syndrome 26
Tags
  • new-gene-name
Red Red List (low evidence)
KIF7
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
KIF7
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
KIT
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
KIT
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Tags
Red Red List (low evidence)
KIT
2 reviews
1 red
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
LMNA
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Partial lipodystrophy and FSGS
Tags
Red Red List (low evidence)
MAFB
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • FSGS with Duane retraction syndrome
Tags
Red Red List (low evidence)
MED28
1 review
1 red
Not set
Sources
  • NHS GMS
Tags
Red Red List (low evidence)
MEFV
1 review
Not set
Sources
  • NHS GMS
Phenotypes
  • Familial Mediterranean fever, AR #249100
Tags
Red Red List (low evidence)
MKS1
0 reviews
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
MKS1
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
MTR
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
  • {Neural tube defects, folate-sensitive, susceptibility to}, 601634
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
MTR
2 reviews
1 red
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
  • {Neural tube defects, folate-sensitive, susceptibility to}, 601634
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
MTR
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Homocystinuria-megaloblastic anemia, cblG complementation type, 250940
  • {Neural tube defects, folate-sensitive, susceptibility to}, 601634
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
MTRR
2 reviews
1 red
Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
MTRR
1 review
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
MTRR
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Homocystinuria-megaloblastic anemia, cbl E type, 236270
  • (originally on the Imerslund-Grasbeck syndrome gene panel)
Tags
Red Red List (low evidence)
MUC1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Medullary cystic kidney disease 1, 174000
Tags
Red Red List (low evidence)
MUC1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • UKGTN
Phenotypes
  • Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel
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 Red
  • Expert Review
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
Tags
Red Red List (low evidence)
MYH11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
Tags
Red Red List (low evidence)
MYH11
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
Tags
Red Red List (low evidence)
NEIL1
1 review
1 red
Not set
Sources
  • NHS GMS
Phenotypes
  • SRNS
Tags
Red Red List (low evidence)
NEK8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
  • ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
Tags
Red Red List (low evidence)
NEK8
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Expert
Phenotypes
  • Ciliopathy genes associated with cystic kidney disease
Tags
Red Red List (low evidence)
NEK8
1 review
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • ?Nephronopthisis 9 MIM 613824
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)
NEU1