ERF Chromosome 19

ETS2 repressor factor

50 variants 50 Health Risk

Upload your DNA to see your personal genotypes for variants in ERF.

What This Gene Does

ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

Gene Info

Gene Group

ETS transcription factor family

Locus Type

gene with protein product

Location

19q13.2

Ensembl

ENSG00000105722

Associated Conditions (11)

TWIST1-related craniosynostosis

Lambdoidal craniosynostosis

Inborn genetic diseases

See cases

Chitayat syndrome

ERF-related disorder

Noonan-like syndrome

Neonatal encephalopathy

Noonan Syndrome-like developmental disorder

Neurodevelopmental disorder

Noonan syndrome

Key Variants

RS149405304

Conflicting classifications of pathogenicity

Health Risk

RS2146960176

Conflicting classifications of pathogenicity

Lambdoidal craniosynostosis, Lambdoidal craniosynostosis

Health Risk

RS376130330

Conflicting classifications of pathogenicity

Health Risk

RS587777009

Conflicting classifications of pathogenicity

Lambdoidal craniosynostosis, TWIST1-related craniosynostosis, Lambdoidal craniosynostosis

Health Risk

RS756557668

Conflicting classifications of pathogenicity

Health Risk

RS758855122

Conflicting classifications of pathogenicity

Inborn genetic diseases, See cases, TWIST1-related craniosynostosis

Health Risk

RS766642440

Conflicting classifications of pathogenicity

Health Risk

RS766762597

Conflicting classifications of pathogenicity

Lambdoidal craniosynostosis, Lambdoidal craniosynostosis

Health Risk

RS1216061173

Likely pathogenic

Chitayat syndrome, Lambdoidal craniosynostosis, Chitayat syndrome

Health Risk

Health Risk

Health Risk

Health Risk

All Variants (50)

RSID	Category	Clinical Significance	Conditions
RS149405304	Health Risk	Conflicting classifications of pathogenicity	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2146960176	Health Risk	Conflicting classifications of pathogenicity	Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS376130330	Health Risk	Conflicting classifications of pathogenicity	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS587777009	Health Risk	Conflicting classifications of pathogenicity	Lambdoidal craniosynostosis, TWIST1-related craniosynostosis, Lambdoidal craniosynostosis
RS756557668	Health Risk	Conflicting classifications of pathogenicity	TWIST1-related craniosynostosis, Inborn genetic diseases, TWIST1-related craniosynostosis
RS758855122	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, See cases, TWIST1-related craniosynostosis
RS766642440	Health Risk	Conflicting classifications of pathogenicity	TWIST1-related craniosynostosis, Inborn genetic diseases, TWIST1-related craniosynostosis
RS766762597	Health Risk	Conflicting classifications of pathogenicity	Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS1216061173	Health Risk	Likely pathogenic	Chitayat syndrome, Lambdoidal craniosynostosis, Chitayat syndrome
RS1555750642	Health Risk	Likely pathogenic	—
RS1568472223	Health Risk	Likely pathogenic	—
RS1599820741	Health Risk	Likely pathogenic	—
RS1599823350	Health Risk	Likely pathogenic	Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS2036390617	Health Risk	Likely pathogenic	Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS2036392683	Health Risk	Likely pathogenic	ERF-related disorder, ERF-related disorder
RS2036425566	Health Risk	Likely pathogenic	See cases, Noonan-like syndrome, See cases
RS2036426238	Health Risk	Likely pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2036427390	Health Risk	Likely pathogenic	Lambdoidal craniosynostosis, ERF-related disorder, Lambdoidal craniosynostosis
RS2146948133	Health Risk	Likely pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2146950390	Health Risk	Likely pathogenic	Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS2513525682	Health Risk	Likely pathogenic	Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS2513525830	Health Risk	Likely pathogenic	Neonatal encephalopathy, Neonatal encephalopathy
RS1555750721	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1555750741	Health Risk	Pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS1555750795	Health Risk	Pathogenic	TWIST1-related craniosynostosis, Inborn genetic diseases, Noonan Syndrome-like developmental disorder
RS1555750816	Health Risk	Pathogenic	TWIST1-related craniosynostosis, Lambdoidal craniosynostosis, TWIST1-related craniosynostosis
RS1568472771	Health Risk	Pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS1568475667	Health Risk	Pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2036401878	Health Risk	Pathogenic	Inborn genetic diseases, Lambdoidal craniosynostosis, Noonan Syndrome-like developmental disorder
RS2036425705	Health Risk	Pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2146949300	Health Risk	Pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2513517350	Health Risk	Pathogenic	Noonan Syndrome-like developmental disorder, Noonan Syndrome-like developmental disorder
RS2513520556	Health Risk	Pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2513520661	Health Risk	Pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2513524258	Health Risk	Pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS2513525725	Health Risk	Pathogenic	Noonan Syndrome-like developmental disorder, Noonan Syndrome-like developmental disorder
RS2513536052	Health Risk	Pathogenic	Noonan Syndrome-like developmental disorder, Noonan Syndrome-like developmental disorder
RS587777006	Health Risk	Pathogenic	Lambdoidal craniosynostosis, TWIST1-related craniosynostosis, Chitayat syndrome
RS587777010	Health Risk	Pathogenic	Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS864321680	Health Risk	Pathogenic	Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS864321681	Health Risk	Pathogenic	Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS886041001	Health Risk	Pathogenic	Chitayat syndrome, Inborn genetic diseases, Chitayat syndrome
RS1064794325	Health Risk	Pathogenic/Likely pathogenic	Lambdoidal craniosynostosis, Neurodevelopmental disorder, TWIST1-related craniosynostosis
RS1064796715	Health Risk	Pathogenic/Likely pathogenic	TWIST1-related craniosynostosis, TWIST1-related craniosynostosis
RS1425504754	Health Risk	Pathogenic/Likely pathogenic	TWIST1-related craniosynostosis, Noonan Syndrome-like developmental disorder, Inborn genetic diseases
RS2036398565	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS2036410199	Health Risk	Pathogenic/Likely pathogenic	Inborn genetic diseases, TWIST1-related craniosynostosis, Inborn genetic diseases
RS2146952114	Health Risk	Pathogenic/Likely pathogenic	TWIST1-related craniosynostosis, Lambdoidal craniosynostosis, Chitayat syndrome
RS587777007	Health Risk	Pathogenic/Likely pathogenic	Lambdoidal craniosynostosis, TWIST1-related craniosynostosis, See cases
RS587777008	Health Risk	Pathogenic/Likely pathogenic	Lambdoidal craniosynostosis, TWIST1-related craniosynostosis, ERF-related disorder