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  3. PHF21A
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Speech apraxia

Gene: PHF21A

Red List (low evidence)
PHF21A (PHD finger protein 21A)
EnsemblGeneIds (GRCh38): ENSG00000135365
EnsemblGeneIds (GRCh37): ENSG00000135365
OMIM: 608325, Gene2Phenotype
PHF21A is in 4 panels

1 review

Thomas Scerri (Murdoch Children's Research Institute)

Red List (low evidence)

First reported CAS case with a de novo PHF21A frameshift variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Created: 27 Jun 2024, 9:48 a.m. | Last Modified: 1 Jul 2024, 11:13 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 27 Jun 2024, 9:48 a.m.
Last Modified: 1 Jul 2024, 11:13 a.m.
Panel version: 0.27

Details

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

History Filter Activity

28 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phf21a has been classified as Red List (Low Evidence).

28 Jun 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phf21a has been classified as Red List (Low Evidence).

27 Jun 2024, Gel status: 0

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

Thomas Scerri (Murdoch Children's Research Institute)

gene: PHF21A was added gene: PHF21A was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHF21A were set to 36117209 Phenotypes for gene: PHF21A were set to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725 Review for gene: PHF21A was set to RED