ERCC4

Green ERCC4 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.24

Sources

• Expert Review Green
• Expert list
• Radboud University Medical Center, Nijmegen
• UKGTN
• Eligibility statement prior genetic testing

Phenotypes

• Fanconi anemia, complementation group Q, 615272

Green ERCC4 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.17

Sources

• Curated sources
• Expert Review Green

Phenotypes

• Class: BM failure FA, (typ AR)
• Fanconi anemia
• MDS
• AML
• Squamous cell carcinoma: oral, GI, vulvar

Red ERCC4 in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.32

Sources

• Expert Review Red
• Radboud University Medical Center, Nijmegen
• UKGTN

Phenotypes

• Xeroderma pigmentosum, group F, 278760
• XFE progeroid syndrome, 610965
• Fanconi anemia, complementation group Q, 615272
• Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
• Fanconi Anaemia

Green ERCC4 in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• Expert Review Green
• IUIS Classification December 2019

Phenotypes

• Fanconi anemia, complementation group Q, 615272
• Bone marrow failure
• Fanconi Anemia Type Q
• Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage

Green ERCC4 in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• UKGTN
• Radboud University Medical Center, Nijmegen
• Illumina TruGenome Clinical Sequencing Services

Phenotypes

• Xeroderma pigmentosum, group F, 278760
• Xeroderma pigmentosum, type F/Cockayne syndrome, 278760

Amber ERCC4 in White matter disorders and cerebral calcification - narrow panel

Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Amber

Phenotypes

• Xeroderma pigmentosum, type F/Cockayne syndrome, OMIM:278760
• XFE progeroid syndrome, OMIM:610965

Green ERCC4 in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert List
• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Fanconi anemia, complementation group Q, 615272
• Xeroderma pigmentosum, type F/Cockayne syndrome, 278760
• Fanconi anemia, complementation group Q, 615272
• XFE progeroid syndrome, 610965
• Xeroderma pigmentosum, group F, 278760

Green ERCC4 in Limb disorders

Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Victorian Clinical Genetics Services

Phenotypes

• Fanconi anemia, complementation group Q, 615272
• Radial Ray abnormality

Green ERCC4 in Pigmentary skin disorders

Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert Review

Phenotypes

• XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
• XPF

Red ERCC4 in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 4.202
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• IUIS Classification December 2019

Phenotypes

• Fanconi anemia, complementation group Q, 615272
• Bone marrow failure
• Fanconi Anemia Type Q
• Normal to low NK, CNS, skeletal, skin, cardiac, GI, urogenital anomalies, increased chromosomal breakage

Green ERCC4 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

Sources

• Expert Review Green
• Literature
• UKGTN

Phenotypes

• Fanconi anemia, complementation group Q, 615272

Green ERCC4 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.27

Sources

• Expert Review Green
• Expert list

Phenotypes

• Xeroderma Pigmentosa

Green ERCC4 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 2.29
Latest signed off version: v2.2 (18 Feb 2020)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Fanconi anemia, complementation group Q, 615272
• Xeroderma pigmentosum, group F, 278760

Green ERCC4 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Curated sources

Phenotypes

• Class: BM failure FA, (typ AR)
• Fanconi anemia
• MDS
• AML
• Squamous cell carcinoma: oral, GI, vulvar

Green ERCC4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.82
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green
• Other
• Literature

Phenotypes

• Fanconi anemia, complementation group Q, 61527

Green ERCC4 in Confirmed Fanconi anaemia or Bloom syndrome

Version 2.4
Latest signed off version: v2.0 (22 Mar 2023)

Sources

• North West GLH
• Yorkshire and North East GLH
• NHS GMS
• Expert Review Green
• Wessex and West Midlands GLH

Phenotypes

• Fanconi anemia, complementation group Q, 615272
• 615272 Fanconi anemia, complementation group Q

Green ERCC4 in Fetal anomalies

Version 3.164
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green
• PAGE DD-Gene2Phenotype

Phenotypes

• XFE PROGEROID SYNDROME
• FANCONI ANEMIA, COMPLEMENTATION GROUP Q
• PRIMORDIAL DWARFISM
• XERODERMA PIGMENTOSUM, GROUP F
• Xeroderma pigmentosum, group F, 278760

Green ERCC4 in DDG2P

Version 3.88
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• DD-Gene2Phenotype

Phenotypes

• PRIMORDIAL DWARFISM 615272
• XFE PROGEROID SYNDROME 610965
• XERODERMA PIGMENTOSUM, GROUP F 278760
• FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272

Red ERCC4 in Monogenic hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert

Red ERCC4 in Anophthalmia or microphthalmia

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51

Sources

• UKGTN

Green ERCC4 in Growth failure in early childhood

Version 3.94
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Green

Phenotypes

• Fanconi anemia, complementation group Q, OMIM:615272

Red ERCC4 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Red
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Xeroderma pigmentosum, group F, 278760
• XFE progeroid syndrome, 610965
• Fanconi anemia, complementation group Q, 615272
• Xeroderma pigmentosum, type F/Cockayne syndrome, 278760

Green ERCC4 in Hereditary ataxia with onset in adulthood

Version 4.34
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Green
• Expert list

Phenotypes

• Xeroderma pigmentosum, group F OMIM:278760
• xeroderma pigmentosum group F MONDO:0010215

Red ERCC4 in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Red

Phenotypes

• XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, 278760

Green ERCC4 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Xeroderma pigmentosum, group F, 278760
• Fanconi anemia, complementation group Q, 615272
• XFE progeroid syndrome, 610965
• Xeroderma pigmentosum, type F/Cockayne syndrome, 278760