Description
Non-syndromic familial congenital anorectal malformations inclusion criteria (41872)
Congenital anorectal malformation regardless of phenotype severity (imperforate anus through to cloaca) 
AND
At least one first or second degree relative with an anorectal malformation.

Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.

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.

Non-syndromic familial congenital anorectal malformations exclusion criteria (41872)
Additional clinical features suggestive of a multisystem syndrome other than VACTERL association.
For example, please do not recruit cases with clinical diagnoses of Currarino syndrome, Townes-Brockes syndrome or Pallister-Hall syndrome.

Prior genetic testing guidance (41872)
- 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.

Non-syndromic familial congenital anorectal malformations prior genetic testing genes (41872)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 No genes specified
Panel Activity

2 reviewers

  • Charles Shaw-Smith (Royal Devon and Exeter NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

51 Entities

51 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
51 Entitiess
Green Green List (high evidence)
CDX1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • anorectal malformation
Tags
Green Green List (high evidence)
FAM58A
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 list
  • Expert Review Green
Phenotypes
  • anorectal malformation
  • STAR syndrome 300707
Tags
  • new-gene-name
Green Green List (high evidence)
FANCB
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • UKGTN
Phenotypes
  • Vacterl Association, X-Linked, With Or Without Hydrocephalus
  • anorectal malformation
  • VACTERL Association with Hydrocephalus
  • Fanconi anemia, complementation group B 300514
  • FANCB-RELATED FANCONI ANEMIA
Tags
Green Green List (high evidence)
FOXF1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • anorectal malformation
  • VATER/VACTERL-like
  • VATER/VACTERL
  • Alveolar capillary dysplasia with misalignment of pulmonary veins 265380
Tags
Green Green List (high evidence)
GLI3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • anorectal malformation
  • Pallister-Hall syndrome 146510
Tags
Green Green List (high evidence)
MED12
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 list
  • Expert Review Green
Phenotypes
  • anorectal malformation
  • Opitz-Kaveggia syndrome 305450
  • FG SYNDROME 1
  • FG SYNDROME
Tags
  • Skewed X-inactivation
Green Green List (high evidence)
MID1
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Opitz GBBB syndrome, type I 300000
  • OPITZ G/BBB SYNDROME, X-LINKED
Tags
Green Green List (high evidence)
MNX1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • anorectal malformation
  • Currarino syndrome 176450
Tags
Green Green List (high evidence)
RECQL4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Baller-Gerold syndrome, OMIM:218600
  • Rothmund-Thomson syndrome, type 2, OMIM:268400
Tags
Green Green List (high evidence)
SALL1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Townes-Brocks syndrome 1 107480
Tags
Green Green List (high evidence)
ZIC3
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Other
Phenotypes
  • anorectal malformation
  • VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
  • VACTERL Association, X-linked 314390
  • VACTERLX 314390
Tags
Amber Amber List (moderate evidence)
CASK
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • anorectal malformation
  • FG syndrome 4 300422
Tags
  • watchlist
Amber Amber List (moderate evidence)
CDX2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • persistent cloaca
Tags
  • watchlist
Amber Amber List (moderate evidence)
MYCN
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • anorectal malformation
  • Feingold syndrome 1 164280
Tags
  • watchlist
Amber Amber List (moderate evidence)
MYH14
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ARM with recto-perineal fistulas
Tags
  • watchlist
Red Red List (low evidence)
AMOTL1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
CDH18
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
CTNND2
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
DESI2
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
DKK1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation and hypospadias
Tags
Red Red List (low evidence)
DKK4
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
EAF1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
EBF2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • imperforate anus
Tags
Red Red List (low evidence)
ECSIT
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
EDNRB
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
FAM110B
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
FNBP1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
HHIP
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
HOXD13
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • VACTERL ASSOCIATION
Tags
Red Red List (low evidence)
INTU
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
JAK2
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
LCA5
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
MPRIP
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
NLGN1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
PROK1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
PTEN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950
Tags
Red Red List (low evidence)
RCSD1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
RFX6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • anorectal malformation
  • Mitchell-Riley syndrome 615710
  • MARTINEZ-FRIAS SYNDROME
Tags
Red Red List (low evidence)
SGCD
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
SIL1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
SOX4
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
SOX6
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
STIM1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
T
1 review
 Not set
Sources
  • Literature
Phenotypes
  • sacral agenesis
  • anorectal atresia
Tags
  • new-gene-name
Red Red List (low evidence)
TBC1D4
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
TLR1
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
TNNI3K
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
TP63
1 review
 Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
TTC7A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • anorectal malformation
  • Gastrointestinal defects and immunodeficiency syndrome 243150
  • INTESTINAL ATRESIA, MULTIPLE
Tags
Red Red List (low evidence)
TTLL9
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags
Red Red List (low evidence)
WDPCP
1 review
 Not set
Sources
  • Literature
Phenotypes
  • anorectal malformation
Tags

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