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Speech apraxia

Gene: ERF

Amber List (moderate evidence)
ERF (ETS2 repressor factor)
EnsemblGeneIds (GRCh38): ENSG00000105722
EnsemblGeneIds (GRCh37): ENSG00000105722
OMIM: 611888, Gene2Phenotype
ERF is in 7 panels

1 review

Thomas Scerri (Murdoch Children's Research Institute)

Red List (low evidence)

First two reported CAS cases with a ERF nonsense variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.

Care et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.

Moddemann et al. (2022; PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments.
Sources: Expert list, Expert Review
Created: 25 Jun 2024, 4:06 p.m. | Last Modified: 1 Jul 2024, 9:03 a.m.
Panel Version: 0.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 4, MIM# 600775

Publications

Created: 25 Jun 2024, 4:06 p.m.
Last Modified: 1 Jul 2024, 9:03 a.m.
Panel version: 0.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Craniosynostosis 4, MIM# 600775
OMIM
611888
Clinvar variants
Variants in ERF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: erf has been classified as Amber List (Moderate Evidence).

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: erf has been classified as Amber List (Moderate Evidence).

25 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: ERF was added gene: ERF was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERF were set to 36117209; 35761471; 35852485 Phenotypes for gene: ERF were set to Craniosynostosis 4, MIM# 600775 Review for gene: ERF was set to AMBER