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Research panel - Severe Paediatric Disorders

Gene: ACAN

Green List (high evidence)
ACAN (aggrecan)
EnsemblGeneIds (GRCh38): ENSG00000157766
EnsemblGeneIds (GRCh37): ENSG00000157766
OMIM: 155760, Gene2Phenotype
ACAN is in 8 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: ACAN; Recommended initial gene rating: Green List (high evidence); Phenotypes: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) | Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3) | ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:15 p.m.
Last Modified: 20 Feb 2020, 5:15 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Spondyloepimetaphyseal dysplasia, aggrecan type, 612813
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800
  • ?Spondyloepiphyseal dysplasia, Kimberley type, 608361
OMIM
155760
Clinvar variants
Variants in ACAN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ACAN 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 ACAN were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800; Spondyloepimetaphyseal dysplasia, aggrecan type, 612813; ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 for gene: ACAN

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ACAN.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ACAN. 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: ACAN was added gene: ACAN was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ACAN was set to