Hereditary Neuropathy - complex
Gene: ERCC6EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Progressive neuropathy is a feature of CS.Created: 24 Jul 2023, 8:09 a.m. | Last Modified: 24 Jul 2023, 8:09 a.m.
Panel Version: 0.176
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type B MIM#133540
Publications
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 25376329
Two siblings from a consanguineous family with bilateral peripheral neuropathy and a homozygous splice variant in ERCC6 (c.1992+3A>G).
PMID: 25453614
Progressive neuropathy has been identified in multiple individuals with Cockayne Syndrome.Created: 14 Aug 2023, 11:34 p.m. | Last Modified: 14 Aug 2023, 11:34 p.m.
Panel Version: 0.274
No established gene-disease association
Peripheral neuropathy with nerve conduction study confirmation is a minor criteria for suspected individuals with Cockayne Syndrome.
No reports of neuropathy as a phenotype in a confirmed diagnosis of Cockayne Syndrome.Created: 6 Jul 2023, 12:40 a.m. | Last Modified: 6 Jul 2023, 5:18 a.m.
Panel Version: 0.166
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cockayne syndrome, type B MIM#133540
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Cockayne syndrome, type B MIM#133540
- OMIM
- 609413
- Clinvar variants
- Variants in ERCC6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Hereditary Neuropathy - complex
- Blepharophimosis
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Lipodystrophy_Lipoatrophy
- Arthrogryposis
- Mendeliome
- Photosensitivity Syndromes
- Cataract
- Syndromic Retinopathy
- Prepair 500+
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ercc6 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ERCC6 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type B MIM#133540
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ERCC6 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ERCC6 was added gene: ERCC6 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities