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

• PMID:11780052
• 11826030
• 12393809
• 12395297
• 12789647
• 12826753
• 12843316
• 12868480
• 15342710
• 16086360
• 16380715
• 16402211
• 16411190
• 17256792
• 23758232
• 24047069
• 24047070
• 24047071
• 24047073
• 3605217
• 8025439
• 8287186
• 843249

Comment on list classification: Good evidence from OMIM and expert reviewer

Created: 1 Feb 2016, 4:39 p.m.

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