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  3. RECQL4
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Sarcoma non-soft tissue

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Non-soft-tissue sarcomas reported in condition.
Sources: Expert list, Expert Review
Created: 17 Sep 2024, 10:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sarcoma, MONDO:0005089; Rothmund-Thomson syndrome type 2, MONDO:0016369; Rothmund-Thomson syndrome, type 2, MIM#268400

Created: 17 Sep 2024, 10:39 p.m.

Panel version: 0.3

History Filter Activity

9 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).

17 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

17 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: RECQL4 was added gene: RECQL4 was added to Sarcoma non-soft tissue. Sources: Expert list,Expert Review Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Sarcoma, MONDO:0005089; Rothmund-Thomson syndrome type 2, MONDO:0016369; Rothmund-Thomson syndrome, type 2, MIM#268400 Review for gene: RECQL4 was set to GREEN