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Hearing loss

Gene: HSD17B4

Green List (high evidence)

HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)
EnsemblGeneIds (GRCh38): ENSG00000133835
EnsemblGeneIds (GRCh37): ENSG00000133835
OMIM: 601860, Gene2Phenotype
HSD17B4 is in 13 panels

5 reviews

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:48 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#233400:Perrault syndrome 1[Growth retardation; Hearing loss, sensorineural; NystagmusLimited extraocular movements; High-arched palate; Immature genitalia; Ovarian dysgenesisSmall ovariesLack of ovariesStreak gonads; Scoliosis; Pes cavusPes equinovarus; Weakness of the lower limbs; Delayed motor development (in some patients)Cognitive impairment (in some patients)Ataxic gait (in some patients)Spastic diplegia (in some patients)Dysarthria (in some patients)Cognitive impairment (in some patients)Cerebellar atrophy (in some patients); Sensorimotor demyelinating or axonal peripheral neuropathy (in some patients)Hyporeflexia (in some patients)Areflexia (in some patients); Amenorrhea, primaryIncreased gonadotropin levelsLow estradiol; Decreased beta-oxidation of pristanic acid]; #261515:D-bifunctional protein deficiency[Failure to thrive (44% of patients); MacrocephalyScaphocephalyLarge fontanellesDelayed closure of the fontanelles; Facial dysmorphism (68%)Frontal bossingHigh foreheadMicrognathiaRetrognathiaLong philtrum; Low-set earsLoss of hearing (45%); Upslanting palpebral fissuresEpicanthal foldsHypertelorismVisual impairment (55%)NystagmusStrabismusFailure to fixate on objectsLoss of vision (34%)Abolished electroretinogram (ERG) (76%); Depressed nasal bridge; High-arched palate; Funnel chestLong, small thorax; Abnormal liver function (26%)Hepatomegaly (43%)Histology shows normal numbers of peroxisomes (84%)Abnormal peroxisomes (53%)Absence of peroxisomes (16%)Cholestasis (9%)Steatosis (22%)Fibrosis (22%)Hemosiderosis (13%)Proliferation of bile canaliculi (9%); Poor feeding; Renal cysts (33%)Adrenal cortex atrophy (42%); Generalized osteopeniaDelayed bone maturationCalcific stippling; Claw hands; Talipes equinovarusHammertoes; Decreased muscle mass; Hypotonia, neonatal (> 90%)Seizures (> 90%)Delayed psychomotor development, severe (> 90%)Polymicrogyria (64%)Ventricular dilatation (29%)White matter dysmyelination/demyelination (71%)Neocortical dysplasia (27%)Hypoplastic/atrophic corpus callosum (55%)Heterotopic neurons in the white matter (36%)Generalized cerebral hypoplasia/atrophy (45%)Cerebellar hypoplasia/atrophy (27%)Gliosis (27%); Delayed peripheral nerve motor conduction velocities (67%); Adrenocortical insufficiency (uncommon); PolyhydramniosFetal ascites; Increased plasma levels of very long-chain fatty acids (VLCFA)Increased plasma levels of bile acid intermediatesDecreased peroxisomal fatty acid beta-oxidationDecreased or absent D-bifunctional protein activity and proteinNormal serum plasmalogen]

Publications

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:36 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

can present as non-syndromic HL
Created: 19 Oct 2015, 7:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HSD17B4 were set to hearing loss; D-bifunctional protein deficiency, 261515; Perrault syndrome 1, 233400

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HSD17B4 were set to PMID:10199776; 10400999; 10748062; 11743515; 11992265; 15216544; 16385454; 180535; 20673864; 23181892; 24553428; 2868085; 2882519; 2921319; 4061497; 7487879; 8279468; 8621399; 8902629; 8938456; 9089413; 9133619; 9197465; 9345094; 9482850; 9880674; 9915948

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for HSD17B4 was changed to BIALLELIC, autosomal or pseudoautosomal

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

HSD17B4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

HSD17B4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

HSD17B4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

HSD17B4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert