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Prepair 1000+

Gene: RECQL4

Green List (high evidence)

RECQL4 (RecQ like helicase 4)
EnsemblGeneIds (GRCh38): ENSG00000160957
EnsemblGeneIds (GRCh37): ENSG00000160957
OMIM: 603780, Gene2Phenotype
RECQL4 is in 17 panels

1 review

Shakira Heerah (Victorian Clinical Genetics Services)

Green List (high evidence)

Rothmund-Thomson Syndrome, Type 2
- Osteosarcoma in 23 patients

RAPADILINO Syndrome
- 10 finnish families
○ Short stature
○ Radial ray defects
○ Infantile diarrhoea
- No significant cancer risk

Baller-Gerold Syndrome
- Radial aplasia/hypoplasia
- Craniosynostosis

Clinical overlap between all three phenotypes
Most cases in infancy and childhood
Severe phenotype: neonatal death, respiratory failure
Atypical features can be: café au lait, forearm swelling - cases that led to osteosarcoma (PMID:39315607)
Created: 23 Oct 2024, 1:35 a.m. | Last Modified: 23 Oct 2024, 1:35 a.m.
Panel Version: 1.470

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400

Publications

History Filter Activity

24 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, 218600 (3) to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400

24 Oct 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RECQL4 were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RECQL4 was added gene: RECQL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, 218600 (3)