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  3. RECQL4
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Craniosynostosis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene disease association: craniosynostosis with radial ray defects.
Created: 7 Oct 2020, 9:27 a.m. | Last Modified: 7 Oct 2020, 9:27 a.m.
Panel Version: 0.177

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Baller-Gerold syndrome, MIM# 218600

Created: 7 Oct 2020, 9:27 a.m.
Last Modified: 7 Oct 2020, 9:27 a.m.
Panel version: 0.177

History Filter Activity

7 Oct 2020, 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).

7 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Oct 2020, Gel status: 3

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

17 Nov 2019, Gel status: 3

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 Craniosynostosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RECQL4 was set to Unknown