Chromosome Breakage Disorders
Gene: RECQL4EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 35025765: Two families reported with a progeroid disorder, however all individuals had the same homozygous missense variant, suggestive of founder effect.Created: 7 May 2023, 2:49 a.m. | Last Modified: 7 May 2023, 2:52 a.m.
Panel Version: 1.19
Gene encodes DNA helicase involved in DNA repair. Bi-allelic variants associated with a range of phenotypes.Created: 23 Apr 2021, 9:35 a.m. | Last Modified: 23 Apr 2021, 9:35 a.m.
Panel Version: 0.145
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600; RECON progeroid syndrome, MIM# 620370
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Rothmund-Thomson syndrome, type 2, MIM# 268400
- RAPADILINO syndrome, MIM# 266280
- Baller-Gerold syndrome, MIM# 218600
- RECON progeroid syndrome, MIM# 620370
- OMIM
- 603780
- Clinvar variants
- Variants in RECQL4
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Chromosome Breakage Disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Hand and foot malformations
- Radial Ray Abnormalities
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Photosensitivity Syndromes
- Growth failure
- Sarcoma non-soft tissue
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600 to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600; RECON progeroid syndrome, MIM# 620370
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RECQL4 were set to 10319867; 12952869; 15964893
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: recql4 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RECQL4 were changed from to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RECQL4 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RECQL4 was added gene: RECQL4 was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RECQL4 was set to Unknown