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Non-syndromic familial congenital anorectal malformations v1.6 Rebecca Foulger Panel types changed to Rare Disease 100K
Non-syndromic familial congenital anorectal malformations v1.1 Ellen McDonagh Panel types changed to Rare Disease 100K; Component Of Super Panel
Non-syndromic familial congenital anorectal malformations v1.0 Eleanor Williams promoted panel to version 1.0
Non-syndromic familial congenital anorectal malformations v0.120 CASK Eleanor Williams Publications for gene: CASK were set to 19200522; 28139025; 20029458; 25886057
Non-syndromic familial congenital anorectal malformations v0.119 CASK Eleanor Williams Tag watchlist tag was added to gene: CASK.
Non-syndromic familial congenital anorectal malformations v0.119 CDX2 Eleanor Williams Tag watchlist tag was added to gene: CDX2.
Non-syndromic familial congenital anorectal malformations v0.119 MYCN Eleanor Williams Tag watchlist tag was added to gene: MYCN.
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Tag watchlist tag was added to gene: MYH14.
Non-syndromic familial congenital anorectal malformations v0.119 SALL1 Eleanor Williams Marked gene: SALL1 as ready
Non-syndromic familial congenital anorectal malformations v0.119 SALL1 Eleanor Williams Gene: sall1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Marked gene: MYH14 as ready
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Gene: myh14 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Classified gene: MYH14 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Added comment: Comment on list classification: Rated Amber as there are 2 cases reported plus some functional data.
Non-syndromic familial congenital anorectal malformations v0.119 MYH14 Eleanor Williams Gene: myh14 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.118 EDNRB Eleanor Williams commented on gene: EDNRB: EDNRB is associated with ABCD syndrome, Waardenburg syndrome, type 4A and {Hirschsprung disease, susceptibility to, 2} in OMIM and ABCD SYNDROME in Gene2Phenotype. Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine and patients with Waardenburg syndrome can show Hirschsprung disease. Hirschspring disease is covered by the Familial Hirschsprung Disease panel in PanelApp.
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Marked gene: CDX2 as ready
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Classified gene: CDX2 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Added comment: Comment on list classification: 2 cases (conference abstract) plus functional evidence so rating Amber.
Non-syndromic familial congenital anorectal malformations v0.118 CDX2 Eleanor Williams Gene: cdx2 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.117 TTC7A Eleanor Williams Classified gene: TTC7A as Red List (low evidence)
Non-syndromic familial congenital anorectal malformations v0.117 TTC7A Eleanor Williams Added comment: Comment on list classification: Rating as red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel
Non-syndromic familial congenital anorectal malformations v0.117 TTC7A Eleanor Williams Gene: ttc7a has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Marked gene: RFX6 as ready
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Gene: rfx6 has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Classified gene: RFX6 as Red List (low evidence)
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Added comment: Comment on list classification: Rating this gene red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel
Non-syndromic familial congenital anorectal malformations v0.116 RFX6 Eleanor Williams Gene: rfx6 has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.115 RECQL4 Eleanor Williams Marked gene: RECQL4 as ready
Non-syndromic familial congenital anorectal malformations v0.115 RECQL4 Eleanor Williams Gene: recql4 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.115 RECQL4 Eleanor Williams Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome 218600 to Baller-Gerold syndrome 218600; Rothmund-Thomson syndrome 268400
Non-syndromic familial congenital anorectal malformations v0.114 RECQL4 Eleanor Williams Publications for gene: RECQL4 were set to 15964893; 28358413
Non-syndromic familial congenital anorectal malformations v0.113 RECQL4 Eleanor Williams Classified gene: RECQL4 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.113 RECQL4 Eleanor Williams Added comment: Comment on list classification: Rating as green as 3 cases/families with probands with either imperforate anus or anus anteposition and a variant in RECQL4 (PMIDs: 15964893, 19291770, 24635570)
Non-syndromic familial congenital anorectal malformations v0.113 RECQL4 Eleanor Williams Gene: recql4 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Marked gene: MYCN as ready
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Classified gene: MYCN as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Added comment: Comment on list classification: Keep Amber rating as only 1 confirmed case of anal atresia and a variant in MYCN. Another case of a patient with Feingold syndrome 1 and anal atresia has been reported but no gene analysis.
Non-syndromic familial congenital anorectal malformations v0.112 MYCN Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.111 CASK Eleanor Williams Marked gene: CASK as ready
Non-syndromic familial congenital anorectal malformations v0.111 CASK Eleanor Williams Gene: cask has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.111 GLI3 Eleanor Williams Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.110 CASK Eleanor Williams Mode of inheritance for gene: CASK was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.109 MNX1 Eleanor Williams Marked gene: MNX1 as ready
Non-syndromic familial congenital anorectal malformations v0.109 MNX1 Eleanor Williams Gene: mnx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Marked gene: MID1 as ready
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Gene: mid1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Added comment: Comment on phenotypes: Added Gene2Phenotype phenotype
Non-syndromic familial congenital anorectal malformations v0.109 MID1 Eleanor Williams Phenotypes for gene: MID1 were changed from Opitz GBBB syndrome, type I 300000 to Opitz GBBB syndrome, type I 300000; OPITZ G/BBB SYNDROME, X-LINKED
Non-syndromic familial congenital anorectal malformations v0.108 MED12 Eleanor Williams Marked gene: MED12 as ready
Non-syndromic familial congenital anorectal malformations v0.108 MED12 Eleanor Williams Gene: med12 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.108 MED12 Eleanor Williams commented on gene: MED12: Note that in Gene2Phenotype the Mutation consequence summary is "uncertain".
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Marked gene: GLI3 as ready
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Gene: gli3 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.108 GLI3 Eleanor Williams Phenotypes for gene: GLI3 were changed from anorectal malformation to anorectal malformation; Pallister-Hall syndrome 146510
Non-syndromic familial congenital anorectal malformations v0.107 GLI3 Eleanor Williams Publications for gene: GLI3 were set to
Non-syndromic familial congenital anorectal malformations v0.106 GLI3 Eleanor Williams Mode of inheritance for gene: GLI3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.105 FOXF1 Eleanor Williams Marked gene: FOXF1 as ready
Non-syndromic familial congenital anorectal malformations v0.105 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.105 ZIC3 Eleanor Williams Phenotypes for gene: ZIC3 were changed from anorectal malformation; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERL Association, X-linked; VACTERLX 314390 to anorectal malformation; VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERL Association, X-linked 314390; VACTERLX 314390
Non-syndromic familial congenital anorectal malformations v0.104 FANCB Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM and Gene2Phenotype
Non-syndromic familial congenital anorectal malformations v0.104 FANCB Eleanor Williams Phenotypes for gene: FANCB were changed from Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus to Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus; Fanconi anemia, complementation group B 300514; FANCB-RELATED FANCONI ANEMIA
Non-syndromic familial congenital anorectal malformations v0.103 FAM58A Eleanor Williams Marked gene: FAM58A as ready
Non-syndromic familial congenital anorectal malformations v0.103 FAM58A Eleanor Williams Added comment: Comment when marking as ready: Marked as ready, but noted that only Build 38 Ensembl gene is listed.
Non-syndromic familial congenital anorectal malformations v0.103 FAM58A Eleanor Williams Gene: fam58a has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 CDX1 Eleanor Williams Marked gene: CDX1 as ready
Non-syndromic familial congenital anorectal malformations v0.103 CDX1 Eleanor Williams Gene: cdx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Eleanor Williams Marked gene: ZIC3 as ready
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Eleanor Williams Added comment: Comment when marking as ready: Gene checked.
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Eleanor Williams Gene: zic3 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Eleanor Williams Marked gene: FANCB as ready
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Eleanor Williams Gene: fancb has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Eleanor Williams commented on gene: TTC7A: Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel.
Non-syndromic familial congenital anorectal malformations v0.103 RFX6 Eleanor Williams commented on gene: RFX6: Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel.
Non-syndromic familial congenital anorectal malformations v0.103 RECQL4 Eleanor Williams edited their review of gene: RECQL4: Changed publications: 24635570, 22347665, 1583650
Non-syndromic familial congenital anorectal malformations v0.103 RECQL4 Eleanor Williams commented on gene: RECQL4: From Genomics England clinical team:

PMID:24635570 1 individual with anteriorly placed anus and RECQL4 mutation (diagnosed with Rothmund-Thomson syndrome)
PMID: 22347665 1 individual with Baller-Gerold syndrome and imperforate anus, no mutational analysis
PMID: 1583650 1 individual as above, also mentions 10 other reported cases of BGS, all with anteriorly placed anus; no mutational analysis
Non-syndromic familial congenital anorectal malformations v0.103 RFX6 Eleanor Williams commented on gene: RFX6: Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel.
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Eleanor Williams commented on gene: TTC7A: Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel.
Non-syndromic familial congenital anorectal malformations v0.103 CASK Charles Shaw-Smith reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 MED12 Charles Shaw-Smith reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Charles Shaw-Smith reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Charles Shaw-Smith reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 MYCN Charles Shaw-Smith reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 SALL1 Charles Shaw-Smith reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Townes-Brocks; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 MNX1 Charles Shaw-Smith reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Currarino syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 MID1 Charles Shaw-Smith reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Opitz GBBB; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 GLI3 Charles Shaw-Smith reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pallister-Hall syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Charles Shaw-Smith reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple gastro-intestinal atresias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Eleanor Williams commented on gene: TTC7A: Checking with Genomics England Clinical team as to whether the phenotype observed associated with this gene is appropriate for this panel.
Non-syndromic familial congenital anorectal malformations v0.103 RFX6 Eleanor Williams commented on gene: RFX6: Checking with Genomics England Clinical team as to whether the phenotype observed associated with this gene is appropriate for this panel.
Non-syndromic familial congenital anorectal malformations v0.103 MYCN Eleanor Williams commented on gene: MYCN: Checking with Genomics England Clinical team as to whether the anorectal phenotype observed associated with this gene is frequent enough to include this gene in this panel, and whether other types of atresia should be considered for this panel.
Non-syndromic familial congenital anorectal malformations v0.103 CASK Charles Shaw-Smith reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MED12 Charles Shaw-Smith reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 ZIC3 Charles Shaw-Smith reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Charles Shaw-Smith reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MYCN Charles Shaw-Smith reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 SALL1 Charles Shaw-Smith reviewed gene: SALL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MNX1 Charles Shaw-Smith reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 MID1 Charles Shaw-Smith reviewed gene: MID1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 GLI3 Charles Shaw-Smith reviewed gene: GLI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.103 TTC7A Charles Shaw-Smith reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BIALLELIC, autosomal or pseudoautosomal; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.102 CDX1 Eleanor Williams Classified gene: CDX1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.102 CDX1 Eleanor Williams Added comment: Comment on list classification: More than 3 cases reported of CDX1 variants in patients with anorectal malformations. Also supporting functional studies.
Non-syndromic familial congenital anorectal malformations v0.102 CDX1 Eleanor Williams Gene: cdx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.101 RECQL4 Eleanor Williams Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome 218600
Non-syndromic familial congenital anorectal malformations v0.100 RECQL4 Eleanor Williams Publications for gene: RECQL4 were set to
Non-syndromic familial congenital anorectal malformations v0.99 RECQL4 Eleanor Williams Classified gene: RECQL4 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.99 RECQL4 Eleanor Williams Added comment: Comment on list classification: Rating as Amber as only 2 reported cases of variants in RECQL4 in patients with Baller-Gerold syndrome showing anorectal malformation phenotypes.
Non-syndromic familial congenital anorectal malformations v0.99 RECQL4 Eleanor Williams Gene: recql4 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.98 RECQL4 Eleanor Williams commented on gene: RECQL4: RECQL4 is associated with Baller-Gerold syndrome in OMIM and Gene2Phenotype (confirmed). It is also associated with RAPADILINO syndrome and Rothmund-Thomson syndrome. Imperforate anus/Anteriorly placed anus are a feature of Baller-Gerold syndrome.

Van Maldergem et al. (2006)(PMID: 15964893) report the analysis of 2 unrelated cases of Baller-Gerold syndrome. Patient 1 in family 1 was compound heterozygous for variants in this gene. In family 2 the patient was homozygous for a splice site mutation. 3 offspring from family 1 showed anus anteposition. No anorectal abnormalities are reported for the child in family 2.

Debeljak et al (2009)(PMID: 19291770) report a case of a child with Baller-Gerold syndrome with features including imperforate anus. The patient had two different truncating mutations in exon 15 of RECQL4.

Kaneko et al (2017)(PMID: 28358413) report a family with 2 brothers with Baller-Gerold syndrome, one with imperforate anus, however the RECQL4 gene was not sequenced.
Non-syndromic familial congenital anorectal malformations v0.98 RECQL4 Eleanor Williams gene: RECQL4 was added
gene: RECQL4 was added to Non-syndromic familial congenital anorectal malformations. Sources: Other
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Suggested for inclusion by Genomics England Clinical team due to association with Baller-Gerold syndrome
Sources: Other
Non-syndromic familial congenital anorectal malformations v0.97 MID1 Eleanor Williams Publications for gene: MID1 were set to
Non-syndromic familial congenital anorectal malformations v0.96 MID1 Eleanor Williams Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I 300000
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Classified gene: MID1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Added comment: Comment on list classification: Rating as green as more than 3 cases/families with plausible disease causing variants in the MID1 gene.
Non-syndromic familial congenital anorectal malformations v0.95 MID1 Eleanor Williams Gene: mid1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.94 MID1 Eleanor Williams commented on gene: MID1: MID1 is associated with Opitz GBBB syndrome, type I in OMIM and Gene2phenotype (confirmed). The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects.
Numerous cases of mutations in the MID1 genes in Opitz syndrome patients have been identified (Quaderi et al. (1997)(PMID: 9354791), Cox et al. (2000)(PMID:11030761), Pinson et al. (2004)(PMID: 15121778),  De Falco et al. (2003)(PMID:12833403), So et al. (2005)(PMID:15558842)). Although all patients with Opitz GBBB syndrome to not show anorectal malformations, at least 3 cases with anal abnormalities have been reported (in Cox et al, Pinson et al and De Falco et al, So et al).
Non-syndromic familial congenital anorectal malformations v0.94 MID1 Eleanor Williams gene: MID1 was added
gene: MID1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Review for gene: MID1 was set to AMBER
Added comment: Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Sources: Expert list
Non-syndromic familial congenital anorectal malformations v0.93 RFX6 Eleanor Williams Mode of inheritance for gene: RFX6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.92 RFX6 Eleanor Williams Phenotypes for gene: RFX6 were changed from anorectal malformation; Mitchell-Riley syndrome 615710 to anorectal malformation; Mitchell-Riley syndrome 615710; MARTINEZ-FRIAS SYNDROME
Non-syndromic familial congenital anorectal malformations v0.91 RFX6 Eleanor Williams Phenotypes for gene: RFX6 were changed from anorectal malformation to anorectal malformation; Mitchell-Riley syndrome 615710
Non-syndromic familial congenital anorectal malformations v0.90 RFX6 Eleanor Williams Publications for gene: RFX6 were set to
Non-syndromic familial congenital anorectal malformations v0.89 TTC7A Eleanor Williams Mode of inheritance for gene: TTC7A was changed from to BIALLELIC, autosomal or pseudoautosomal
Non-syndromic familial congenital anorectal malformations v0.88 TTC7A Eleanor Williams Phenotypes for gene: TTC7A were changed from anorectal malformation to anorectal malformation; Gastrointestinal defects and immunodeficiency syndrome 243150; INTESTINAL ATRESIA, MULTIPLE
Non-syndromic familial congenital anorectal malformations v0.87 TTC7A Eleanor Williams Publications for gene: TTC7A were set to
Non-syndromic familial congenital anorectal malformations v0.86 TTC7A Eleanor Williams commented on gene: TTC7A: TTC7A is associated with Gastrointestinal defects and immunodeficiency syndrome in OMIM and INTESTINAL ATRESIA, MULTIPLE (confirmed) in Gene2Phenotype. Numerous cases of patients TTC7A and gastrointestinal defects and immunodeficiency syndrome have been reported (PMID: 23423984;24292712;23830146;25174867;25174867).
Non-syndromic familial congenital anorectal malformations v0.86 RFX6 Eleanor Williams commented on gene: RFX6: RFX6 is associated with Mitchell-Riley syndrome in OMIM and MARTINEZ-FRIAS SYNDROME in Gene2Phenotype (confirmed). OMIM state that there is considerable phenotypic overlap between the two syndromes, the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients. Both syndromes include intestinal atresia as a major phenotype.

Smith et al. (2010) (PMID: 20148032) report 6 unrelated probands and Sansbury et al. (2015)(PMID:26264437) report 2 related patients (double first cousins) with plausible disease causing variants in RFX6 and Mitchell-Riley syndrome. All affected individuals show duodenal atresia. Some also show intestinal phenotypes such as jejunal atresia, intestinal malrotation, duodenal/jejunal web and Meckel's diverticulum.
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams commented on gene: FOXF1: Genomics England clinical team suggest inclusion of this gene as an infant might be investigated for anorectal malformation before recognising the cause of the respiratory problems.
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Classified gene: FOXF1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Added comment: Comment on list classification: Rating as green. 3 cases/families with point mutations in FOXF1 in individuals showing a anorectal malformation phenotype in patients with Alveolar capillary dysplasia with misalignment of pulmonary veins (PMID: 23505205) and a further case described in PMID: 26294094 from a patient with VATER/VACTERL or VATER/VACTERL-like phenotype.
Non-syndromic familial congenital anorectal malformations v0.86 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.85 FAM58A Eleanor Williams Added comment: Comment on mode of inheritance: All reported cases have been in females.
Non-syndromic familial congenital anorectal malformations v0.85 FAM58A Eleanor Williams Mode of inheritance for gene: FAM58A was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Non-syndromic familial congenital anorectal malformations v0.84 FAM58A Eleanor Williams Publications for gene: FAM58A were set to 18297069; 8818947; 28225384
Non-syndromic familial congenital anorectal malformations v0.83 FAM58A Eleanor Williams Classified gene: FAM58A as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.83 FAM58A Eleanor Williams Added comment: Comment on list classification: Rated green as 3 cases/families with point mutations in this gene, leading to potentially deleterious effects have been reported.
Non-syndromic familial congenital anorectal malformations v0.83 FAM58A Eleanor Williams Gene: fam58a has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.82 FAM58A Eleanor Williams Phenotypes for gene: FAM58A were changed from anorectal malformation to anorectal malformation; STAR syndrome 300707
Non-syndromic familial congenital anorectal malformations v0.81 FAM58A Eleanor Williams Publications for gene: FAM58A were set to
Non-syndromic familial congenital anorectal malformations v0.80 FAM58A Eleanor Williams commented on gene: FAM58A: FAM58A (CCNQ) is associated with STAR syndrome in OMIM and Gene2Phenotype (confirmed).

Unger et al. (2008)(PMID: 18297069) found 2 females with anogenital and renal malformations, dysmorphic facial features, normal intelligence, and syndactyly of toes with genomic deletions removing regions of the FAM58A gene. In another 4 affected females, the authors found 3 different heterozygous point mutations. Two of these patients, a mother-daughter pair, had been reported by Green et al. (1996) (PMID: 8818947). All 6 patients showed anal atresia.

Lefroy et al. (2017)(PMID: 28225384) identified a heterozygous deletion of the FAM58A gene in a 19-year-old woman with STAR syndrome. Her mother, who had only bilateral 4-5 toe syndactyly, was found to have approximately 50% mosaicism for the same deletion.
Non-syndromic familial congenital anorectal malformations v0.80 CASK Eleanor Williams Publications for gene: CASK were set to
Non-syndromic familial congenital anorectal malformations v0.79 CASK Eleanor Williams Phenotypes for gene: CASK were changed from anorectal malformation to anorectal malformation; FG syndrome 4 300422
Non-syndromic familial congenital anorectal malformations v0.78 CASK Eleanor Williams commented on gene: CASK: In OMIM CASK is associated with FG syndrome 4. OMIM reports that in affected members of an Italian family with FG syndrome-4 (300422), Piluso et al. (2009)(PMID: 19200522) identified a missense mutation (R28L) in the CASK gene that segregated fully with the disease and was not found in 1,000 ethnically matched control X chromosomes. The three affected males have many clinical signs of FG syndrome and marked mental retardation, relative macrocephaly, congenital hypotonia, behavioral disturbances, and severe constipation. The substitution is at a highly conserved residue in the CaM-kinase domain.

A search of PubMed finds the report of Dunn et al (2017)(PMID: 28139025) which describes a patient with a de novo splice site mutation in CASK (c.2521-2A>G) and clinical features of the FG syndrome-4 including severe constiptation.

Other reports of variants in the CASK gene and X-linked mental retardation with additional phenotypic features (e.g. Hackett et al., 2010 (PMID: 20029458), Moog et al., 2015 (PMID: 25886057) but they do not appear to show an anorectal associated phenotype.
Non-syndromic familial congenital anorectal malformations v0.78 MED12 Eleanor Williams Phenotypes for gene: MED12 were changed from anorectal malformation to anorectal malformation; Opitz-Kaveggia syndrome 305450; FG SYNDROME 1; FG SYNDROME
Non-syndromic familial congenital anorectal malformations v0.77 MED12 Eleanor Williams Publications for gene: MED12 were set to
Non-syndromic familial congenital anorectal malformations v0.76 MED12 Eleanor Williams Mode of inheritance for gene: MED12 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.75 MED12 Eleanor Williams Classified gene: MED12 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.75 MED12 Eleanor Williams Added comment: Comment on list classification: Rated green as more than 3 families with the R961W variant show a relevant phenotype.
Non-syndromic familial congenital anorectal malformations v0.75 MED12 Eleanor Williams Gene: med12 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.74 MED12 Eleanor Williams commented on gene: MED12: MED12 is associated with Opitz-Kaveggia syndrome (also known as FG syndrome and FG syndrome 1) in OMIM and Gene2Phenotype (confirmed). Opitz-Kaveggia syndrome (OKS) is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, but phenotypes relevant to this panel also include anal stenosis, imperforate anus anteriorly placed anus and constipation.

As stated in OMIM Risheg et al 2007 (PMID: 17334363) reported that the original family from which the designation FG was derived and 5 other families had a recurrent mutation in the MED12 gene, R961W. Imperforate anus, wide flat thumbs, and wide great toes were present in 7 of 10 cases. Failure to find the change in 451 normal men and in 343 consecutive newborn males suggested that it is not a rare polymorphic variant. The finding of the mutation in patients of various ethnic backgrounds suggested that families did not share a common ancestor.

Ding et al. (2008) (PMID: 18691967) showed that the R961W substitution disrupt the REST corepressor function of MED12.

Other variants in MED12 are linked to other syndromes such as LUJAN-FRYNS SYNDROME and OHDO SYNDROME, X-LINKED.
Non-syndromic familial congenital anorectal malformations v0.74 FOXF1 Eleanor Williams Phenotypes for gene: FOXF1 were changed from anorectal malformation; VATER/VACTERL-like; VATER/VACTERL to anorectal malformation; VATER/VACTERL-like; VATER/VACTERL; Alveolar capillary dysplasia with misalignment of pulmonary veins 265380
Non-syndromic familial congenital anorectal malformations v0.73 FOXF1 Eleanor Williams Publications for gene: FOXF1 were set to 26294094
Non-syndromic familial congenital anorectal malformations v0.72 FOXF1 Eleanor Williams Mode of inheritance for gene: FOXF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.71 FOXF1 Eleanor Williams commented on gene: FOXF1: FOXF1 is associated with Alveolar capillary dysplasia with misalignment of pulmonary veins in OMIM and Gene2Phenotype (confirmed). Although the main features of this disorder are concerned a pulmonary phenotype, gastrointestinal phenotypes may also be seen including

Stankiewicz et al. (2009)(PMID: 19500772) identified four different heterozygous mutations (frameshift, nonsense, and no-stop) in the candidate FOXF1 gene in unrelated patients with sporadic Alveolar capillary dysplasia with misalignment of pulmonary veins and multiple congenital anomalies. They also identified microdeletions encompassing the FOX transcription factor gene cluster in chromosome 16q24.1q24.2 in some patients. They note an association of point mutations in FOXF1 with bowel malrotation, and that microdeletions of FOXF1 were associated with hypoplastic left heart syndrome and gastrointestinal atresias, probably due to haploinsufficiency for the neighboring FOXC2 and FOXL1 genes.

Sen et al. (2013)(PMID: 23505205) report a further set of 34 novel de novo and four familial mutations of which three are maternally inherited, in unrelated patients with ACD/MPV that imply a role for FOXF1 DNA-binding domain. Three maternally inherited cases are consistent with the finding that FOXF1 is paternally imprinted. Out of 42 patients with point mutations they report imperforate anus or anal atresia in 3 patients (7%), and other intestinal problems such as duedenal atresia, and intestinal malrotation in several more.

Slot et al (2018)(PMID: 30058937) provide a more recent review of the now over 200 reported cases.
Non-syndromic familial congenital anorectal malformations v0.71 MYCN Eleanor Williams Phenotypes for gene: MYCN were changed from anorectal malformation to anorectal malformation; Feingold syndrome 1 164280
Non-syndromic familial congenital anorectal malformations v0.70 MYCN Eleanor Williams Mode of inheritance for gene: MYCN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.69 MYCN Eleanor Williams Publications for gene: MYCN were set to
Non-syndromic familial congenital anorectal malformations v0.68 MYCN Eleanor Williams commented on gene: MYCN: MYCN is associated with Feingold syndrome 1 in OMIM and a confirmed association with this disorder in Gene2Phenotype. Phenotypic features of this syndrome include variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation.

Marcelis et al 2008 (PMID: 18470948) sequenced MYCN in 130 patients, 93 of which had a strong clinical suspicion of Feingold syndrome, the rest were missing some of the core features. 16 heterozygous mutations in MYCN were found in 26 patients from 17 families. All mutations either occurred de novo or segregated withthe disease in the family. Together with previous reports, a total of 23 separate MYCN mutations in 77 patients from 32 families have now been described. A total of 19 of the mutations create a stop codon or cause a frameshift. Out of 77 patients 55% showed atresias of the gastrointestinal tract. Esophageal atresia and duodenal atresia were almost equally frequent, 32 vs. 31%. Other atresias, jejunal or anal, are rare.
Non-syndromic familial congenital anorectal malformations v0.68 PTEN Eleanor Williams commented on gene: PTEN: The patient described in Reardon et al 2001 (PMID:11748304) with novel heterozygous germline mutation in PTEN (H61D), in a patient with features of VATER association does NOT show anorectal malformation.
Non-syndromic familial congenital anorectal malformations v0.68 HOXD13 Eleanor Williams Publications for gene: HOXD13 were set to
Non-syndromic familial congenital anorectal malformations v0.67 HOXD13 Eleanor Williams commented on gene: HOXD13: Garcia-Barceló et al 2008 (PMID:19006232) report a heterozygous ‘‘denovo’’ mutation consisting of a 21base-pair deletion (c.163_183del) in the HOXD13 gene in a VACTERL patient presenting with tetralogy of Fallot (heart defect), vesicoureteric reflux, fusion of the distal inter-phalangealjoints of the 4th and 5th toes and anal atresia. Parents and child were screened for variants in SHH, GLI3, and HOXD13. The mutation resulted in the removal of 7 alanines, No polyalanine contraction was found in 192 chromosomes of unrelated andethnically matched healthy individuals. There is the possibility that the HOXD13 mutation identified is only responsible for the digital phenotype and that a second mutation elsewhere in the genome exists that may explain the complexity of the phenotype.
Non-syndromic familial congenital anorectal malformations v0.67 CDX2 Eleanor Williams Publications for gene: CDX2 were set to
Non-syndromic familial congenital anorectal malformations v0.66 CDX1 Eleanor Williams Publications for gene: CDX1 were set to 23329892
Non-syndromic familial congenital anorectal malformations v0.65 CDX1 Eleanor Williams commented on gene: CDX1: Tang et al 2016 (PMID: 27042391) show that CDX1 is expressed in the developing cloaca/hindgut in human embryos from weeks 4 to 9.
Non-syndromic familial congenital anorectal malformations v0.65 CDX2 Eleanor Williams commented on gene: CDX2: Gao et al 2009 (PMID: 19386267) show that mice with Cdx2 ablated conditionally in the developing gut display severe hindgut abnormalities with a failure of colon development and a complete terminal blockage.

Tang et al 2016 (PMID: 27042391) show that CDX2 is expressed in the developing cloaca/hindgut in human embryos from weeks 4 to 9.
Non-syndromic familial congenital anorectal malformations v0.65 SALL1 Eleanor Williams Classified gene: SALL1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.65 SALL1 Eleanor Williams Added comment: Comment on list classification: Rating as Green following feedback from the Genomics England clinical team. Although not all cases of Townes-Brocks syndrome 1 present with this phenotype, it is conceivably part of the presenting phenotype.
Non-syndromic familial congenital anorectal malformations v0.65 SALL1 Eleanor Williams Gene: sall1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.64 GLI3 Eleanor Williams Classified gene: GLI3 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.64 GLI3 Eleanor Williams Added comment: Comment on list classification: Rating as green as sufficient evidence of association with Pallister-Hall
syndrome, which has anorectal malformation as part of the phenotype and potential early presentation of anorectal anomalies.
Non-syndromic familial congenital anorectal malformations v0.64 GLI3 Eleanor Williams Gene: gli3 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.63 GLI3 Eleanor Williams commented on gene: GLI3: This gene is associated with Pallister-Hall syndrome in OMIM. Anorectal malformations is one of the phenotypes observed in this syndrome. 2 families have been reported with Pallister-Hall syndrome (PMID: 9054938; 10945658] and a variant in GLI3. Both families report some individuals with anorectal malformations. Stoll et al. (2001) (PMID: 11693785) described a patient considered to have Pallister-Hall syndrome in whom they could not identify a mutation in the GLI3 gene. A mutation was found in the GLI1 gene. Other cases of GLI3 variants in Pallister-Hall syndrome patients have been found but not always with reports of the anorectal malformation phenotype e.g. PMID: 21108399; 29204208.
Non-syndromic familial congenital anorectal malformations v0.63 MNX1 Eleanor Williams Phenotypes for gene: MNX1 were changed from anorectal malformation to anorectal malformation; Currarino syndrome 176450
Non-syndromic familial congenital anorectal malformations v0.62 MNX1 Eleanor Williams Publications for gene: MNX1 were set to
Non-syndromic familial congenital anorectal malformations v0.61 MNX1 Eleanor Williams Mode of inheritance for gene: MNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.60 MNX1 Eleanor Williams Classified gene: MNX1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.60 MNX1 Eleanor Williams Added comment: Comment on list classification: Sufficient cases with a plausible disease causing variant found. Anorectal malformations is a dominant phenotype for Currarino syndrome.
Non-syndromic familial congenital anorectal malformations v0.60 MNX1 Eleanor Williams Gene: mnx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.59 MNX1 Eleanor Williams edited their review of gene: MNX1: Changed publications: 10631160, 10749657, 11528505, 15216552, 16906559; Changed phenotypes: Currarino syndrome 176450
Non-syndromic familial congenital anorectal malformations v0.59 MNX1 Eleanor Williams commented on gene: MNX1: This gene is associated with Currarino syndrome in OMIM. Currarino syndrome is associated with partial sacral agenesis with intact first sacral vertebra ('sickle-shaped sacrum'), a presacral mass, and anorectal malformation. Mutations in MNX1 (formerly HLXB9) have been found in more than 3 cases of patients with Currarino syndrome (PMID: 10631160; 10749657; 11528505; 15216552;16906559]). A familial pattern of monoallelic inheritance is seen. Although there is a broad spectrum of phenotypes seem anorectal malformations appears to be a frequently observed phenotype.
Non-syndromic familial congenital anorectal malformations v0.59 SALL1 Eleanor Williams commented on gene: SALL1: This gene is associated with Townes-Brocks syndrome in OMIM. The syndrome is characterised by the triad of imperforate anus, dysplastic ears, and thumb malformations. More than three cases of families with Townes-Brocks syndrome and a mutation in the SALL1 gene have been reported. However, not all cases present with anorectal malformations. Cases reported that do present with ARM include those reported by Liberalesso et al 2017 (PMID: 29110636), Kosaki et al 2007 (PMID: 17431915) and Lin et al (2016) (PMID: 27073431).
Non-syndromic familial congenital anorectal malformations v0.59 SALL1 Eleanor Williams gene: SALL1 was added
gene: SALL1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Literature
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SALL1 were set to Townes-Brocks syndrome 1 107480
Review for gene: SALL1 was set to AMBER
Added comment: Adding this gene as it is associated with Townes-Brocks syndrome in OMIM. Although patients known to have this syndrome are not covered by the panel, it may be useful to include this gene to cover cases where the syndrome has not been already identified.
Sources: Literature
Non-syndromic familial congenital anorectal malformations v0.58 TTC7A Eleanor Williams Classified gene: TTC7A as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.58 TTC7A Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.58 TTC7A Eleanor Williams Gene: ttc7a has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.57 TTC7A Eleanor Williams commented on gene: TTC7A
Non-syndromic familial congenital anorectal malformations v0.57 RFX6 Eleanor Williams Classified gene: RFX6 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.57 RFX6 Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.57 RFX6 Eleanor Williams Gene: rfx6 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.56 RFX6 Eleanor Williams commented on gene: RFX6
Non-syndromic familial congenital anorectal malformations v0.56 FAM58A Eleanor Williams Classified gene: FAM58A as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.56 FAM58A Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.56 FAM58A Eleanor Williams Gene: fam58a has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.55 FAM58A Eleanor Williams commented on gene: FAM58A: Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.55 ZIC3 Eleanor Williams commented on gene: ZIC3: Gene is on expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.55 CASK Eleanor Williams Classified gene: CASK as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.55 CASK Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.55 CASK Eleanor Williams Gene: cask has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Deleted their comment
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Classified gene: CASK as Red List (low evidence)
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.54 CASK Eleanor Williams Gene: cask has been classified as Red List (Low Evidence).
Non-syndromic familial congenital anorectal malformations v0.53 CASK Eleanor Williams commented on gene: CASK
Non-syndromic familial congenital anorectal malformations v0.53 MED12 Eleanor Williams Classified gene: MED12 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.53 MED12 Eleanor Williams Added comment: Comment on list classification: Rated gene amber as is on expert list
Non-syndromic familial congenital anorectal malformations v0.53 MED12 Eleanor Williams Gene: med12 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.52 MED12 Eleanor Williams commented on gene: MED12
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Classified gene: GLI3 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Added comment: Comment on list classification: Rated as Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.52 GLI3 Eleanor Williams Gene: gli3 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.51 GLI3 Eleanor Williams commented on gene: GLI3
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Classified gene: MNX1 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Added comment: Comment on list classification: Rating as Amber as on expert list.
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Gene: mnx1 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.50 MNX1 Eleanor Williams commented on gene: MNX1
Non-syndromic familial congenital anorectal malformations v0.50 FANCB Eleanor Williams commented on gene: FANCB: Gene is on expert list from Dr Charles Shaw-Smith (Royal Deveon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Classified gene: FOXF1 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Added comment: Comment on list classification: Rating Amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.50 FOXF1 Eleanor Williams Gene: foxf1 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.49 FOXF1 Eleanor Williams commented on gene: FOXF1: Gene added from expert list from Dr Charles Shaw-Smith (Royal Deveon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.49 MYCN Eleanor Williams Classified gene: MYCN as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.49 MYCN Eleanor Williams Added comment: Comment on list classification: Rating amber as is on expert list.
Non-syndromic familial congenital anorectal malformations v0.49 MYCN Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.48 MYCN Eleanor Williams commented on gene: MYCN
Non-syndromic familial congenital anorectal malformations v0.48 FAM58A Eleanor Williams commented on gene: FAM58A
Non-syndromic familial congenital anorectal malformations v0.48 FAM58A Eleanor Williams Tag new-gene-name tag was added to gene: FAM58A.
Non-syndromic familial congenital anorectal malformations v0.48 TTC7A Eleanor Williams Added phenotypes anorectal malformation for gene: TTC7A
Non-syndromic familial congenital anorectal malformations v0.48 RFX6 Eleanor Williams Added phenotypes anorectal malformation for gene: RFX6
Non-syndromic familial congenital anorectal malformations v0.48 FAM58A Eleanor Williams gene: FAM58A was added
gene: FAM58A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: FAM58A was set to
Phenotypes for gene: FAM58A were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.48 ZIC3 Eleanor Williams Added phenotypes anorectal malformation for gene: ZIC3
Non-syndromic familial congenital anorectal malformations v0.48 CASK Eleanor Williams Added phenotypes anorectal malformation for gene: CASK
Non-syndromic familial congenital anorectal malformations v0.48 MED12 Eleanor Williams Added phenotypes anorectal malformation for gene: MED12
Non-syndromic familial congenital anorectal malformations v0.48 GLI3 Eleanor Williams Added phenotypes anorectal malformation for gene: GLI3
Non-syndromic familial congenital anorectal malformations v0.48 MNX1 Eleanor Williams Added phenotypes anorectal malformation for gene: MNX1
Non-syndromic familial congenital anorectal malformations v0.48 FANCB Eleanor Williams Added phenotypes anorectal malformation for gene: FANCB
Non-syndromic familial congenital anorectal malformations v0.48 FOXF1 Eleanor Williams Added phenotypes anorectal malformation for gene: FOXF1
Non-syndromic familial congenital anorectal malformations v0.48 MYCN Eleanor Williams Added phenotypes anorectal malformation for gene: MYCN
Non-syndromic familial congenital anorectal malformations v0.47 TTC7A Eleanor Williams gene: TTC7A was added
gene: TTC7A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: TTC7A was set to
Phenotypes for gene: TTC7A were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 RFX6 Eleanor Williams gene: RFX6 was added
gene: RFX6 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: RFX6 was set to
Phenotypes for gene: RFX6 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 ZIC3 Eleanor Williams Source Expert list was added to ZIC3.
Added phenotypes anorectal malformation for gene: ZIC3
Non-syndromic familial congenital anorectal malformations v0.47 CASK Eleanor Williams gene: CASK was added
gene: CASK was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: CASK was set to
Phenotypes for gene: CASK were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 MED12 Eleanor Williams gene: MED12 was added
gene: MED12 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MED12 was set to
Phenotypes for gene: MED12 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 GLI3 Eleanor Williams gene: GLI3 was added
gene: GLI3 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: GLI3 was set to
Phenotypes for gene: GLI3 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 MNX1 Eleanor Williams gene: MNX1 was added
gene: MNX1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MNX1 was set to
Phenotypes for gene: MNX1 were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations v0.47 FANCB Eleanor Williams Source Expert list was added to FANCB.
Added phenotypes anorectal malformation for gene: FANCB
Non-syndromic familial congenital anorectal malformations v0.47 FOXF1 Eleanor Williams Source Expert list was added to FOXF1.
Added phenotypes anorectal malformation for gene: FOXF1
Non-syndromic familial congenital anorectal malformations v0.47 MYCN Eleanor Williams gene: MYCN was added
gene: MYCN was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list
Mode of inheritance for gene: MYCN was set to
Phenotypes for gene: MYCN were set to anorectal malformation
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams classified FANCB as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations ZIC3 Eleanor Williams classified ZIC3 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations CDX2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations EBF2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations HOXD13 Eleanor Williams commented on gene: HOXD13
Non-syndromic familial congenital anorectal malformations PTEN Eleanor Williams commented on gene: PTEN
Non-syndromic familial congenital anorectal malformations MYH14 Eleanor Williams commented on gene: MYH14
Non-syndromic familial congenital anorectal malformations CDX1 Eleanor Williams commented on gene: CDX1
Non-syndromic familial congenital anorectal malformations DKK1 Eleanor Williams commented on gene: DKK1
Non-syndromic familial congenital anorectal malformations TP63 Eleanor Williams commented on gene: TP63
Non-syndromic familial congenital anorectal malformations T Eleanor Williams commented on gene: T
Non-syndromic familial congenital anorectal malformations EDNRB Eleanor Williams commented on gene: EDNRB
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams commented on gene: FANCB
Non-syndromic familial congenital anorectal malformations ZIC3 Eleanor Williams commented on gene: ZIC3
Non-syndromic familial congenital anorectal malformations FOXF1 Eleanor Williams commented on gene: FOXF1
Non-syndromic familial congenital anorectal malformations HHIP Eleanor Williams commented on gene: HHIP
Non-syndromic familial congenital anorectal malformations WDPCP Eleanor Williams commented on gene: WDPCP
Non-syndromic familial congenital anorectal malformations TTLL9 Eleanor Williams commented on gene: TTLL9
Non-syndromic familial congenital anorectal malformations TNNI3K Eleanor Williams commented on gene: TNNI3K
Non-syndromic familial congenital anorectal malformations TLR1 Eleanor Williams commented on gene: TLR1
Non-syndromic familial congenital anorectal malformations TBC1D4 Eleanor Williams commented on gene: TBC1D4
Non-syndromic familial congenital anorectal malformations STIM1 Eleanor Williams commented on gene: STIM1
Non-syndromic familial congenital anorectal malformations SOX6 Eleanor Williams commented on gene: SOX6
Non-syndromic familial congenital anorectal malformations SOX4 Eleanor Williams commented on gene: SOX4
Non-syndromic familial congenital anorectal malformations SIL1 Eleanor Williams commented on gene: SIL1
Non-syndromic familial congenital anorectal malformations SGCD Eleanor Williams commented on gene: SGCD
Non-syndromic familial congenital anorectal malformations RCSD1 Eleanor Williams commented on gene: RCSD1
Non-syndromic familial congenital anorectal malformations PROK1 Eleanor Williams commented on gene: PROK1
Non-syndromic familial congenital anorectal malformations NLGN1 Eleanor Williams commented on gene: NLGN1
Non-syndromic familial congenital anorectal malformations MPRIP Eleanor Williams commented on gene: MPRIP
Non-syndromic familial congenital anorectal malformations LCA5 Eleanor Williams commented on gene: LCA5
Non-syndromic familial congenital anorectal malformations JAK2 Eleanor Williams commented on gene: JAK2
Non-syndromic familial congenital anorectal malformations INTU Eleanor Williams commented on gene: INTU
Non-syndromic familial congenital anorectal malformations FNBP1 Eleanor Williams commented on gene: FNBP1
Non-syndromic familial congenital anorectal malformations FAM110B Eleanor Williams commented on gene: FAM110B
Non-syndromic familial congenital anorectal malformations ECSIT Eleanor Williams commented on gene: ECSIT
Non-syndromic familial congenital anorectal malformations EAF1 Eleanor Williams commented on gene: EAF1
Non-syndromic familial congenital anorectal malformations DKK4 Eleanor Williams commented on gene: DKK4
Non-syndromic familial congenital anorectal malformations DESI2 Eleanor Williams commented on gene: DESI2
Non-syndromic familial congenital anorectal malformations CTNND2 Eleanor Williams commented on gene: CTNND2
Non-syndromic familial congenital anorectal malformations CDH18 Eleanor Williams commented on gene: CDH18
Non-syndromic familial congenital anorectal malformations AMOTL1 Eleanor Williams commented on gene: AMOTL1
Non-syndromic familial congenital anorectal malformations ZIC3 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations WDPCP Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TTLL9 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TNNI3K Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TLR1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TBC1D4 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations T Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations STIM1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SOX6 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SOX4 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SIL1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations SGCD Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations RCSD1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations PTEN Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations PROK1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations TP63 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations NLGN1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations MYH14 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations MPRIP Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations LCA5 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations JAK2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations INTU Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations HOXD13 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations HHIP Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FOXF1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FNBP1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations FAM110B Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations EDNRB Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations ECSIT Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations EAF1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations DKK4 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations DESI2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations DKK1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations CTNND2 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations CDX1 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations CDH18 Eleanor Williams Added gene to panel
Non-syndromic familial congenital anorectal malformations AMOTL1 Eleanor Williams Added gene to panel