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Hearing loss

Gene: SALL4

Green List (high evidence)

SALL4 (spalt like transcription factor 4)
EnsemblGeneIds (GRCh38): ENSG00000101115
EnsemblGeneIds (GRCh37): ENSG00000101115
OMIM: 607343, Gene2Phenotype
SALL4 is in 16 panels

3 reviews

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#147750:IVIC syndrome[Hearing loss; StrabismusExternal ophthalmoplegia; Imperforate anusRectovaginal fistula; Rectovaginal fistula; Scoliosis; Radial ray hypoplasiaLimited elbow movementRadioulnar synostosis; Triphalangeal thumbHypoplastic thumbsAbsent thumbsFirst metacarpal hypoplasiaThenar hypoplasiaLimited wrist movementLimited interphalangeal movementCarpal bone hypoplasiaCarpal bone fusion; Deltoid muscle hypoplasiaPectoralis major muscle hypoplasia; Mild thrombocytopenia (before age 50)Leukocytosis (before age 50)]; #607323:Duane-radial ray syndrome[Facial weaknessFacial asymmetry; Sensorineural deafnessAbnormal pinnasSlit-like openings of the exterior auditory meatusExternal ear malformations; Duane anomaly (less common)Congenital strabismusImpaired ocular abductionImpaired ocular adductionGlobe retraction and deviation on adductionPalpebral fissure narrowing on adductionImpaired convergenceOptic disc hypoplasiaOptic disc dysplasiaRetinal colobomaIris colobomaEpicanthal folds, mildHypertelorism, mildMicrophthalmiaCataracts; Atrial septal defect (rare)Ventricular septal defect (rare); Choanal stenosisChoanal atresia; Gastrointestinal anomalies (less common)Hirschsprung diseaseAnal stenosisImperforate anus; Renal anomalies (less common)Hypoplastic kidneyRenal agenesisAbnormally placed kidney (dystopic)Ectopic kidney with fusionMalrotation of the kidneyHorseshoe kidneyHydronephrosisPelvicalyceal dilatationVesicoureteric reflux; Fused cervical vertebraeScoliosisSpina bifida occulta; Radial ray abnormalities, highly variableHypoplastic radiusAbsent radiusHypoplastic humerusHypoplastic ulna; Preaxial polydactylyHypoplastic thumb(s)Absent thumb(s)Triphalangeal thumb(s)Absent metacarpal(s)SyndactylyThenar hypoplasiaRadial deviation of handsClubbed hand; Flat feet' Sandal gap' between first and second toes; Thenar eminence hypoplasiaPectoralis hypoplasiaUpper limb muscle hypoplasia]

Publications

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert reviewer
Created: 1 Feb 2016, 4:39 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

causes syndromic hearing loss (Townes Brock) which is variable. I would want to know about a Tier 1 variant in this gene.
Created: 19 Oct 2015, 6:47 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • hearing loss
  • Duane-radial ray syndrome 607323
  • IVIC syndrome 147750
OMIM
607343
Clinvar variants
Variants in SALL4
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Sep 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SALL4 were set to hearing loss; Duane-radial ray syndrome 607323; IVIC syndrome 147750

1 Feb 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).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for SALL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SALL4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory