Non-syndromic familial congenital anorectal malformations
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 20 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 analysisCreated: 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: OtherCreated: 16 Oct 2018, 10:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Baller-Gerold syndrome, OMIM:218600
- Rothmund-Thomson syndrome, type 2, OMIM:268400
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
- Cutaneous photosensitivity with a likely genetic cause
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Sarcoma cancer susceptibility
- Fetal anomalies
- Primary ovarian insufficiency
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Bilateral congenital or childhood onset cataracts
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome 218600; Rothmund-Thomson syndrome 268400 to Baller-Gerold syndrome, OMIM:218600; Rothmund-Thomson syndrome, type 2, OMIM:268400
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Suggested for inclusion by Gen
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: recql4 has been classified as Green List (High Evidence).
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
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: RECQL4 were set to 15964893; 28358413
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: recql4 has been classified as Green List (High Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: RECQL4 were changed from to Baller-Gerold syndrome 218600
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: RECQL4 were set to
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: recql4 has been classified as Amber List (Moderate Evidence).
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