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  3. PHF21A
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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Macrosomia at birth.
Created: 1 Feb 2022, 12:47 a.m. | Last Modified: 1 Feb 2022, 12:47 a.m.
Panel Version: 0.3006

Phenotypes
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 618725

Created: 24 Apr 2020, 7:29 a.m.
Last Modified: 1 Feb 2022, 12:47 a.m.
Panel version: 0.3006

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

9 cases with intellectual disability and craniofacial anomalies (Potocki-Shaffer syndrome), with de novo truncating variants in PHF21A. No functional evidence of variants, but PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

2 other unrelated individuals with translocations disrupting PHF21A. Lymphoblastoid cell lines from translocation subjects showed derepression of the neuronal gene SCN3A and reduced LSD1 occupancy at the SCN3A promoter, supporting a direct functional consequence of PHF21A haploinsufficiency on transcriptional regulation.
Sources: Literature
Created: 11 Dec 2019, 12:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
no OMIM number yet.

Publications

Created: 11 Dec 2019, 12:10 p.m.

Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1326

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIIM# 618725
OMIM
608325
Clinvar variants
Variants in PHF21A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phf21a has been classified as Green List (High Evidence).

1 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHF21A were changed from POTOCKI-SHAFFER SYNDROME to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIIM# 618725

1 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHF21A were set to

1 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PHF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phf21a has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHF21A was added gene: PHF21A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME