Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic (Version 0.145)

Description

This panel was developed and is maintained by VCGS and is part of the KidGen CAKUT SuperPanel.

Panel Activity

23 reviewers

Belinda Chong (Victorian Clinical Genetics Services)
Natalie Tan (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Paul De Fazio (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Arina Puzriakova (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Krithika Murali (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Naomi Baker (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

74 Entities

74 reviewed, 61 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 74 Entitiess
Green Green List (high evidence)	ACE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	ACTG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Visceral myopathy, MIM# 155310 Tags
Green Green List (high evidence)	AFF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes KINSSHIP syndrome, MIM# 619297 Tags
Green Green List (high evidence)	AGT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	AGTR1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	ANOS1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	BMP4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Green Green List (high evidence)	CELSR3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Tags
Green Green List (high evidence)	CENPF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Stromme syndrome, MIM#243605 Tags
Green Green List (high evidence)	CEP55	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500 Tags
Green Green List (high evidence)	CHD7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHARGE syndrome MIM#214800 Tags
Green Green List (high evidence)	CTU2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome Tags
Green Green List (high evidence)	DHCR7	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome OMIM #270400 Tags
Green Green List (high evidence)	DYRK1A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 7 (MIM#614104) Tags
Green Green List (high evidence)	EXOC3L2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain malformation renal syndrome, MIM# 620943 Tags
Green Green List (high evidence)	EYA1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FAM58A	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes STAR syndrome, MIM# 300707 Tags
Green Green List (high evidence)	FOXP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mental retardation with language impairment and with or without autistic features, MIM# 613670 Tags
Green Green List (high evidence)	FRAS1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FREM1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FREM2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GDF6	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic CAKUT Tags
Green Green List (high evidence)	GLI3	3 reviews 3 green	Unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GPC3	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GRIP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fraser syndrome 3 MIM#617667 CAKUT Tags
Green Green List (high evidence)	HAAO	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660 Tags
Green Green List (high evidence)	HOXA13	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	HS2ST1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Tags
Green Green List (high evidence)	HSPA9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Even-plus syndrome, MIM# 616854 skeletal anomalies congenital cardiac and renal anomalies: marked small nose Tags
Green Green List (high evidence)	JAG1	2 reviews 1 green	Unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KDM6A	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KIF14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM #617914 ?Meckel syndrome 12, OMIM #616258 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KYNU	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661 Tags
Green Green List (high evidence)	LRP4	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MYOCD	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Megabladder congenital heart disease cardiomyopathy Tags
Green Green List (high evidence)	NADSYN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077 Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845 Tags
Green Green List (high evidence)	NFIA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Brain malformations with or without urinary tract defects - MIM#613735 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NOTCH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alagille syndrome 2 (MIM#610205) Hajdu-Cheney syndrome (MIM#102500) Tags
Green Green List (high evidence)	NR6A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Craniofacial microsomia MONDO:0015397 Tags
Green Green List (high evidence)	PAN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Syndromic disease MONDO:0002254 Tags
Green Green List (high evidence)	PBX1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641 Tags
Green Green List (high evidence)	REN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	ROBO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neurooculorenal syndrome, MIM# 620305 Tags
Green Green List (high evidence)	ROR2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SALL1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SALL4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SALL4- related disorders Tags
Green Green List (high evidence)	SHROOM4	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719 Tags
Green Green List (high evidence)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes ZTTK syndrome, MIM# 617140 Tags
Green Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microphthalmia, isolated, with coloboma 8, MIM#601186 Tags
Green Green List (high evidence)	TBX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related Combined skeletal-kidney dysplasia syndrome Tags
Green Green List (high evidence)	TFAP2A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Branchiooculofacial syndrome, MIM# 113620 Tags
Green Green List (high evidence)	TMEM260	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Structural heart defects and renal anomalies syndrome, MIM# 617478 Tags
Green Green List (high evidence)	TOP2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Tags
Green Green List (high evidence)	WBP11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227 malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems Tags
Green Green List (high evidence)	WDR44	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, WDR44-related Tags
Green Green List (high evidence)	WLS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zaki syndrome, MIM#619648 Tags
Green Green List (high evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Robinow syndrome, autosomal dominant 1, MIM#180700 Tags
Green Green List (high evidence)	ZIC3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes VACTERL association, X-linked, MIM#314390 Tags
Green Green List (high evidence)	ZMYM2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522 Tags
Amber Amber List (moderate evidence)	COQ7	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 8, MIM#616733 Tags
Amber Amber List (moderate evidence)	DACT1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Townes-Brocks syndrome 2, MIM#617466 Tags
Amber Amber List (moderate evidence)	FOXC1	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital anomalies of the kidney and urinary tract (CAKUT) Tags
Amber Amber List (moderate evidence)	SIX5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Branchiootorenal syndrome 2, MIM# 610896 Tags disputed
Amber Amber List (moderate evidence)	TSHZ3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes congenital anomaly of kidney and urinary tract MONDO:0019719 Tags
Red Red List (low evidence)	CHRM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related Tags
Red Red List (low evidence)	EZH2	3 reviews 2 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FGF10	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes LADD syndrome OMIM #149730 Tags
Red Red List (low evidence)	FGFR2	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FGFR3	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Red Phenotypes LADD syndrome, MIM#149730 Tags
Red Red List (low evidence)	FOXC2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus OMIM #153400 Tags
Red Red List (low evidence)	SEMA3A	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SIX1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Branchiootic syndrome 3, MIM#608389 Deafness, autosomal dominant 23, MIM# 605192 Tags

Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic (Version 0.145)

23 reviewers

74 Entities

74 reviewed, 61 green

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