RECQL4

RecQ like helicase 4
OMIM: 603780, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Green RECQL4 in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.25	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Emory Genetics Laboratory Other Radboud University Medical Center, Nijmegen Phenotypes Baller-Gerold syndrome, OMIM:218600 RAPADILINO syndrome, OMIM:266280 Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ESID Registry 20171117 ESID Registry 20171117 Phenotypes Rothmund-Thomson syndrome, 268400 Combined immunodeficiency
Red RECQL4 in Primary ovarian insufficiency Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 1.71	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Rothmund-Thomson syndrome 268400
Red RECQL4 in VACTERL-like phenotypes Level 3: Limb disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.35	review	Not set	Sources Emory Genetics Laboratory
Green RECQL4 in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert List Expert Review Green Expert list Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in Limb disorders Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South East RGC GSTT Viapath Phenotypes Baller-Gerold syndrome, OMIM:218600 RAPADILINO syndrome, OMIM:266280 Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Baller-Gerold syndrome, OMIM:218600 Rothmund-Thomson syndrome, type 2, OMIM:268400
Red RECQL4 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green ESID Registry 20171117 Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400 Combined immunodeficiency
Green RECQL4 in Cutaneous photosensitivity with a likely genetic cause Level 2: Dermatology Version 3.16 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in Sarcoma cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.26	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400 Osteosarcoma
Green RECQL4 in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.30	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Baller-Gerold syndrome, OMIM:218600 RAPADILINO syndrome, OMIM:266280 Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.14	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Baller-Gerold syndrome, OMIM:218600 Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Baller-Gerold syndrome, OMIM:218600 RAPADILINO syndrome, OMIM:266280 Rothmund-Thomson syndrome, type 2, OMIM:268400
Green RECQL4 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes 218600 Baller-Gerold syndrome 218600
Green RECQL4 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RAPADILINO SYNDROME 266280 BALLER-GEROLD SYNDROME 218600 ROTHMUND-THOMSON SYNDROME 268400
Red RECQL4 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Gene2Phenotype confirmed gene with ID HPO
Green RECQL4 in Sarcoma susceptibility Level 2: Cancer susceptibility Version 1.82 Latest signed off version: v1.2 (18 Feb 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert list Phenotypes RAPADILINO syndrome, OMIM:266280 Rothmund-Thomson syndrome, type 2, OMIM:268400 Osteosarcoma (disease), MONDO:0009807
Green RECQL4 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Rothmund-Thomson syndrome, type 2, OMIM:268400

RECQL4

20 panels

Green RECQL4 in Radial dysplasia

Sources

Phenotypes

Green RECQL4 in COVID-19 research

Sources

Phenotypes

Red RECQL4 in Primary ovarian insufficiency

Sources

Phenotypes

Red RECQL4 in VACTERL-like phenotypes

Sources

Green RECQL4 in Childhood solid tumours

Sources

Phenotypes

Green RECQL4 in Limb disorders

Sources

Phenotypes

Green RECQL4 in Pigmentary skin disorders

Sources

Phenotypes

Red RECQL4 in Bilateral congenital or childhood onset cataracts

Sources

Phenotypes

Green RECQL4 in Primary immunodeficiency or monogenic inflammatory bowel disease

Sources

Phenotypes

Green RECQL4 in Cutaneous photosensitivity with a likely genetic cause

Sources

Phenotypes

Green RECQL4 in Sarcoma cancer susceptibility

Sources

Phenotypes

Green RECQL4 in Childhood solid tumours cancer susceptibility

Sources

Phenotypes

Green RECQL4 in Skeletal dysplasia

Sources

Phenotypes

Green RECQL4 in Non-syndromic familial congenital anorectal malformations

Sources

Phenotypes

Green RECQL4 in Fetal anomalies

Sources

Phenotypes

Green RECQL4 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Sources

Phenotypes

Green RECQL4 in DDG2P

Sources

Phenotypes

Red RECQL4 in Intellectual disability

Sources

Phenotypes

Green RECQL4 in Sarcoma susceptibility

Sources

Phenotypes

Green RECQL4 in Monogenic short stature

Sources

Phenotypes