Non-syndromic familial congenital anorectal malformations

Gene: RECQL4

Green List (high evidence)

RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 18 panels

1 review

Eleanor Williams (Genomics England Curator)

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)
Created: 1 Nov 2018, 2:49 p.m.
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
Created: 23 Oct 2018, 3:23 p.m.
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.
Created: 16 Oct 2018, 11:08 a.m.
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.
Created: 16 Oct 2018, 11:07 a.m.
Suggested for inclusion by Genomics England Clinical team due to association with Baller-Gerold syndrome
Sources: Other
Created: 16 Oct 2018, 10:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

History Filter Activity

8 Nov 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Suggested for inclusion by Gen

1 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: recql4 has been classified as Green List (High Evidence).

1 Nov 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome 218600 to Baller-Gerold syndrome 218600; Rothmund-Thomson syndrome 268400

1 Nov 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: RECQL4 were set to 15964893; 28358413

1 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: recql4 has been classified as Green List (High Evidence).

16 Oct 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome 218600

16 Oct 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: RECQL4 were set to

16 Oct 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: recql4 has been classified as Amber List (Moderate Evidence).

16 Oct 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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