Description
CAKUT inclusion criteria

- CAKUT with syndromic manifestations in other organ systems, OR
- Isolated CAKUT with a first degree relative with CAKUT or unexplained ESKD, OR
- Multiple distinct renal/urinary tract abnormalities or CAKUT with unexplained ESKD before age 25
- Unaffected individuals have undergone appropriate investigation for cryptic disease e.g. renal ultrasound scan - Individuals with severe or syndromic disease should be recruited according to standard guidance, preferably as trios
- In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

CAKUT exclusion criteria
- Clinical or molecular diagnosis of autosomal dominant or autosomal recessive polycystic kidney disease - Known causative genetic or chromosomal abnormality

Prior genetic testing guidance
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

CAKUT prior genetic testing genes
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:
- HNF1B if personal or family history of diabetes mellitus
- SALL1 if 2 out of imperforate anus, ear abnormalities, thumb abnormalities

Closing statement
These requirements will be kept under continual review during the main programme and may be subject to change.

13 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Bill Newman (Manchester Centre for Genomic Medicine)

    Group: other
    Workplace: other

  • Sian Ellard (University of Exeter Medical School)

    Group: other
    Workplace: other

  • John Sayer (Newcastle University)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Helen Stuart (University of Manchester)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Olivia Niblock (Genomics England Curator)

    Group: Other
    Workplace: Other

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

    Group: Other
    Workplace: Research lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • chirag patel (Genetic Health Queensland)

    Group: Other
    Workplace: Other clinical service

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Detlef Bockenhauer (GOSH-UCL)

    Group: GeCIP domain
    Workplace: NHS clinical service

95 Entities

94 reviewed, 34 green

List Entity Reviews Mode of inheritance Details
95 Entitiess
Green Green List (high evidence)
ACE
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis
  • {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular
Tags
Green Green List (high evidence)
ACTG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Megacystis-microcolon intestinal hypoperistalsis syndrome
  • visceral myopathy
  • Berdon syndrome
Tags
Green Green List (high evidence)
AGT
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis
  • {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
AGTR1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis
  • Hypertension, essential, 145500
  • Renal tubular dysgenesis, 267430
Tags
Green Green List (high evidence)
ANOS1
5 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Kallman syndrome
  • Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)
Tags
Green Green List (high evidence)
BNC2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Posterior urethral valves
  • PUV
  • Congenital lower urinary-tract obstruction
  • Lower urinary tract obstruction, congenital, 618612
Tags
Green Green List (high evidence)
CHD7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • CHARGE syndrome
Tags
Green Green List (high evidence)
DSTYK
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal hypodysplasia
  • ureteropelvic junction obstruction
  • vesicoureteric reflux
  • CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1
  • {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805
Tags
Green Green List (high evidence)
EYA1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Anterior segment anomalies with or without cataract, 113650
  • Branchiootic syndrome 1, 602588
  • Otofaciocervical syndrome, 166780
  • Branchiootorenal Spectrum Disorders
Tags
Green Green List (high evidence)
FRAS1
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fraser syndrome
Tags
Green Green List (high evidence)
FREM1
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bifid nose with or without anorectal and renal anomalies, 608980
Tags
Green Green List (high evidence)
FREM2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fraser syndrome
Tags
Green Green List (high evidence)
GATA3
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
  • Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255
Tags
Green Green List (high evidence)
GLI3
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pallister-Hall syndrome
Tags
Green Green List (high evidence)
GRIP1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fraser syndrome
  • isolated CAKUT
Tags
Green Green List (high evidence)
HAAO
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green Green List (high evidence)
HNF1B
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Renal cysts and diabetes syndrome
  • Diabetes mellitus, noninsulin-dependent
Tags
Green Green List (high evidence)
HPSE2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Urofacial Syndrome
  • Congenital bladder disease: dyssynergic, high pressure bladder
Tags
Green Green List (high evidence)
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • RCAD syndrome
  • utero-vaginal atresia
  • Schizophrenia
  • 614527
  • delayed development, intellectual disability
  • Renal cysts and diabetes syndrome
  • Autism Spectrum Disorder
  • Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females
  • Chromosome 17q12 deletion syndrome
  • global developmental delay
Tags
Green Green List (high evidence)
ITGA8
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal hypodysplasia/aplasia 1, 191830
Tags
Green Green List (high evidence)
KYNU
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
  • ?Hydroxykynureninuria, 236800
  • multiple congenital malformations
  • VACTERL-like phenotype
Tags
  • treatable
Green Green List (high evidence)
LRIG2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Urofacial syndrome
  • Congenital bladder disease: dyssynergic, high pressure bladder.
Tags
Green Green List (high evidence)
NPHP3
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Nephronophthisis 3, 604387
  • Renal-hepatic-pancreatic dysplasia 1, 208540
  • Meckel syndrome 7, 267010
  • Renal-Hepatic-Pancreatic Dysplasia
Tags
Green Green List (high evidence)
PAX2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Papillorenal syndrome, 120330
  • RENAL-COLOBOMA SYNDROME
  • Papillorenal syndrome
  • Glomerulosclerosis, focal segmental, 7
Tags
Green Green List (high evidence)
PBX1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • CAKUT
Tags
  • deletions
Green Green List (high evidence)
REN
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Tubular Dysgenesis
  • [Hyperproreninemia]
Tags
Green Green List (high evidence)
RET
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Renal Adysplasia
  • Multiple endocrine neoplasia IIA, 171400
  • Medullary thyroid carcinoma, 155240
  • Multiple endocrine neoplasia IIB, 162300
  • Central hypoventilation syndrome, congenital, 209880
  • Pheochromocytoma, 171300
  • Renal agenesis, 191830
  • {Hirschsprung disease, susceptibility to, 1}, 142623
Tags
Green Green List (high evidence)
RPGRIP1L
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Tags
Green Green List (high evidence)
RRM2B
4 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Tags
Green Green List (high evidence)
SALL1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Townes-Brocks syndrome, 107480
  • Townes-Brocks branchiootorenal-like syndrome, 107480
  • imperforate anus, ear abnormalities, thumb abnormalities
Tags
Green Green List (high evidence)
SIX5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Branchiootorenal syndrome 2, 610896
Tags
Green Green List (high evidence)
TBX18
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Tags
Green Green List (high evidence)
TRAP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Tags
Green Green List (high evidence)
VPS33B
3 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome
  • Arthrogryposis, renal dysfunction, and cholestasis 1, 208085
  • Arthrogryposis, renal dysfunction, and cholestasis
Tags
Amber Amber List (moderate evidence)
BMP4
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • CAKUT
  • renal maldevelopment
  • congenital renal dysplasia
  • Congenital Anomaly of the Kidneys and Urinary Tract
Tags
Amber Amber List (moderate evidence)
CENPF
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Stromme syndrome, 243605
  • bilateral renal hypoplasia
  • Duodenal atresia
  • Hydronephrosis
Tags
Red Red List (low evidence)
ACTA2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Multi system smooth muscle dysfunction
Tags
Red Red List (low evidence)
BICC1
3 reviews
3 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to}, 601331
Tags
Red Red List (low evidence)
BMP7
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • CAKUT
Tags
Red Red List (low evidence)
BSND
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Bartter syndrome, type 4a, 602522
  • Sensorineural deafness with mild renal dysfunction, 602522
Tags
Red Red List (low evidence)
CHD1L
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Renal or urinary tract malformation (CAKUT)
  • ORPHA93545
Tags
Red Red List (low evidence)
CHRM3
3 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Prune Belly-Like Syndrome
  • Low pressure congenital megabladder
Tags
Red Red List (low evidence)
COX10
2 reviews
2 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
Tags
Red Red List (low evidence)
DACT1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Other
Phenotypes
  • ?Townes-Brocks syndrome 2,617466
  • TBS2
Tags
Red Red List (low evidence)
DLG3
1 review
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC1
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
FOXC2
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
GDNF
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
GREM1
2 reviews
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
HCN3
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
ISL1
1 review
1 red
Unknown
Sources
  • Literature
Phenotypes
  • CAKUT
Tags
Red Red List (low evidence)
KIT
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
MUC1
2 reviews
1 green
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Medullary cystic kidney disease 1, 174000
Tags
Red Red List (low evidence)
MYH11
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
Tags
Red Red List (low evidence)
NEK8
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
Tags
Red Red List (low evidence)
OCRL
3 reviews
1 green 1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • UKGTN
Tags
Red Red List (low evidence)
ROBO2
5 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Vesicoureteral reflux 2, 610878
  • Vesicoureteral Reflux
Tags
Red Red List (low evidence)
SHH
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
SIX1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Branchiootorenal Spectrum Disorders
Tags
Red Red List (low evidence)
SLIT2
2 reviews
1 green 1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
SMARCA4
1 review
1 red
Unknown
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
SOX17
1 review
1 red
Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Vesicoureteral reflux 3, 613674
Tags
Red Red List (low evidence)
SPRY1
1 review
1 red
Not set
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
TNXB
1 review
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
TSHZ3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
UMOD
3 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Uromodulin-associated kidney disease
  • Medullary Cystic Kidney Disease 2
  • Hyperuricemic nephropathy, familial juvenile 1, 162000
Tags
Red Red List (low evidence)
UPK2
2 reviews
2 red
Other - please specifiy in evaluation comments
Sources
  • Expert list
  • Expert Review Red
Tags
Red Red List (low evidence)
UPK3A
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Renal Adysplasia
Tags
Red Red List (low evidence)
VIPAS39
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Tags
No list No list
CEP55
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500
Tags
No list No list
CHRNA3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • CAKUT
  • dysautonomia
Tags
No list No list
CTU2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142
Tags
No list No list
DHCR7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Smith-Lemli-Opitz syndrome, MIM# 270400
Tags
No list No list
EXOC3L2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Dandy-Walker malformation
  • renal dysplasia
  • bone marrow failure
Tags
No list No list
FAM58A
1 review
1 green
Other
Sources
  • Expert list
Phenotypes
  • STAR syndrome, MIM# 300707
Tags
No list No list
FGF20
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Renal hypodysplasia/aplasia 2, MIM#615721
Tags
No list No list
GPC3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Simpson-Golabi-Behmel syndrome, type 1 312870
Tags
No list No list
GREB1L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Renal hypodysplasia/aplasia 3, MIM# 617805
Tags
No list No list
HOXA13
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Hand-foot-uterus syndrome, MIM# 140000
Tags
No list No list
JAG1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Alagille syndrome 1
  • OMIM #118450
Tags
No list No list
KDM6A
1 review
1 green
Other
Sources
  • Expert list
Phenotypes
  • Kabuki syndrome 2, MIM# 300867
Tags
No list No list
KMT2D
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Kabuki syndrome 1, MIM# 147920
Tags
No list No list
LIFR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • CAKUT
Tags
No list No list
LRP4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Cenani-Lenz syndactyly syndrome, MIM# 212780
Tags
No list No list
MYOCD
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Megabladder
  • congenital heart disease
  • cardiomyopathy
Tags
No list No list
NADSYN1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Multiple congenital abnormalities
  • absent kidneys
  • cardiac
  • limb
  • vertebral
Tags
No list No list
NIPBL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 1, MIM# 122470
Tags
No list No list
NOTCH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Alagille syndrome 2
  • OMIM #610205
Tags
No list No list
ROR2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Robinow syndrome, autosomal recessive, MIM# 268310
Tags
No list No list
SALL4
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • SALL4- related disorders
Tags
No list No list
STRA6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Microphthalmia, syndromic 9, MIM# 601186
Tags
No list No list
TBC1D1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • CAKUT
Tags
No list No list
TFAP2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Branchiooculofacial syndrome, MIM# 113620
Tags
No list No list
WNT5A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Robinow syndrome, autosomal dominant 1, MIM#180700
Tags
No list No list
ZIC3
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • VACTERL association, X-linked, MIM# 314390
Tags

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