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Severe Paediatric Disorders

Gene: PHF21A

Green List (high evidence)

PHF21A (PHD finger protein 21A)
EnsemblGeneIds (GRCh38): ENSG00000135365
EnsemblGeneIds (GRCh37): ENSG00000135365
OMIM: 608325, Gene2Phenotype
PHF21A is in 4 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: PHF21A; Recommended initial gene rating: Green List (high evidence); Phenotypes: Potocki-Shaffer syndrome, 601224;PSS;Intellectual disability; Mode of inheritance:
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Potocki-Shaffer syndrome, 601224
  • PSS
  • Intellectual disability
OMIM
608325
Clinvar variants
Variants in PHF21A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PHF21A were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PHF21A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown