Description
This disorder does not have an eligibility statement.

Currarino triad involves the association of partial sacral agenesis with intact first sacral vertebra ('sickle-shaped sacrum'), a presacral mass, and anorectal malformation. However, Currarino triad shows phenotypic variability- most patients don't show all three defects, and some patients with Currarino syndrome are asymptomatic.
Panel Activity

3 reviewers

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

11 Entities

11 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
11 Entitiess
Green Green List (high evidence)
MNX1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CURRARINO SYNDROME
  • Currarino syndrome
  • Currarino syndrome,176450
Tags
Red Red List (low evidence)
FUZ
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Neural tube defects
  • Sacral agenesis
Tags
Red Red List (low evidence)
GDF11
2 reviews
1 red 		Unknown
Sources
  • Other
Phenotypes
  • anteroposterior patterning defects, renal and palatal agenesis, presacral mass, anorectal malformation, and exomphalos
Tags
Red Red List (low evidence)
GDF6
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Klippel-Feil syndrome 1, autosomal dominant
  • sacral agenesis
Tags
Red Red List (low evidence)
PAM16
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type
  • Partial sacral agenesis
Tags
Red Red List (low evidence)
PCSK5
2 reviews
1 red 		Unknown
Sources
  • Other
Phenotypes
  • cardiac, tracheoesophageal, anorectal, and anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, presacral mass, renal and palatal agenesis, and pulmonary hypoplasia
Tags
Red Red List (low evidence)
SHH
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • holoprosencephaly
  • Holoprosencephaly 3
Tags
Red Red List (low evidence)
T
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Sacral agenesis with vertebral anomalies,615709
Tags
  • new-gene-name
Red Red List (low evidence)
VANGL1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • SACRAL DEFECT WITH ANTERIOR MENINGOCELE
  • Caudal regression syndrome
  • SDAM
  • sacral agenesis
  • Caudal regression syndrome,600145
  • Caudal Dysgenesis Syndrome
Tags
Red Red List (low evidence)
VANGL2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Neural tube defects
  • Sacral agenesis
Tags
Red Red List (low evidence)
ZIC3
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Other
Phenotypes
  • Heterotaxy, visceral, 1, X-linked
  • Sacral agenesis
  • Rectal stenosis
Tags

Major version comments

Downloads

Download lists

Download Version