Monogenic hearing loss
Gene: SALL4
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
Comment on list classification: Good evidence from OMIM and expert reviewerCreated: 1 Feb 2016, 4:39 p.m.
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
Phenotypes for SALL4 were set to hearing loss; Duane-radial ray syndrome 607323; IVIC syndrome 147750
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SALL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SALL4 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Emory Genetics Laboratory