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Hearing loss

Gene: SMS

Red List (low evidence)

SMS (spermine synthase)
EnsemblGeneIds (GRCh38): ENSG00000102172
EnsemblGeneIds (GRCh37): ENSG00000102172
OMIM: 300105, Gene2Phenotype
SMS is in 6 panels

1 review

Jun Shen (Harvard Medical School)

Inheritance:X-linked recessive
Created: 9 Feb 2016, 10:08 a.m.
Inheritance:X-linked recessive Inheritance:X-linked recessive
Created: 7 Feb 2016, 9:01 a.m.

Mode of inheritance
Other

Phenotypes
#309583:Mental retardation, X-linked, Snyder-Robinson type[Tall statureShort stature; Thin body build; Facial asymmetryPrognathismShort philtrum; Asymmetric dysplastic ears; High myopiaHypertelorism, mildSlanted palpebral fissures; Prominent lower lipSmall upper lipHigh, narrow palateCleft palateBifid uvula; Overcrowded teeth; Short, webbed neck; Widely spaced nipples; Pectus excavatumPectus carinatum; Cryptorchidism; OsteoporosisMultiple fractures; Kyphoscoliosis; Long, thin handsLong, hyperextensible fingers; Long hallucesClubfoot; Decreased muscle mass; Mental retardation (males)HypotoniaWide-based gaitSeizures; Nasal speechDysarthric speech]

Publications

Details

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SMS was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert