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Research panel - Severe Paediatric Disorders

Gene: ERCC6

Green List (high evidence)
ERCC6 (ERCC excision repair 6, chromatin remodeling factor)
EnsemblGeneIds (GRCh38): ENSG00000225830
EnsemblGeneIds (GRCh37): ENSG00000225830
OMIM: 609413, Gene2Phenotype
ERCC6 is in 23 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ERCC6; Recommended initial gene rating: Green List (high evidence); Phenotypes: Cerebrooculofacioskeletal syndrome 1, 214150 (3) | Cockayne syndrome, type B, 133540 (3) | De Sanctis-Cacchione syndrome, 278800 (3) | Premature ovarian failure 11, 616946 (3) | UV-sensitive syndrome 1, 600630 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:18 p.m. | Last Modified: 20 Feb 2020, 5:18 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:18 p.m.
Last Modified: 20 Feb 2020, 5:18 p.m.
Panel version: 0.12

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ERCC6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ERCC6 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; UV-sensitive syndrome 1, 600630; De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; Premature ovarian failure 11, 616946 for gene: ERCC6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; UV-sensitive syndrome 1, 600630; De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; Premature ovarian failure 11, 616946 for gene: ERCC6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Cerebrooculofacioskeletal syndrome 1, 214150; UV-sensitive syndrome 1, 600630; De Sanctis-Cacchione syndrome, 278800; Cockayne syndrome, type B, 133540; Premature ovarian failure 11, 616946 for gene: ERCC6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes UV-sensitive syndrome 1, 600630; Cerebrooculofacioskeletal syndrome 1, 214150; Cockayne syndrome, type B, 133540; De Sanctis-Cacchione syndrome, 278800; Premature ovarian failure 11, 616946 for gene: ERCC6

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ERCC6.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ERCC6. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ERCC6 was added gene: ERCC6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ERCC6 was set to