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SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2
Pathological Phenotypes: 1
Microphthalmia with limb anomalies
OMIM: #206920
Microphthalmia with limb anomalies is caused by homozygous mutations in the SMOC1 gene. Distinctive features are unilateral or bilateral anophthalmia with limb anomalies. Intellectual disabilities is also a common feature. The most common limb anomalies are toe syndactyly, oligodactyly, metacarpal synostosis, camptodactyly and finger syndactyly. Less commonly patients can show also other types of abnormalities like bowed tibia, synostosis of carpals/tarsals, sandal gap and finger clinodactyly.
Prevalence: unknown
Affected individuals listed: 18
Click here to visualize the curated SMOC1 clinical signs list.
Variant Stats
| Most common pathogenic variant in general population | ||||
| c. position | rs number | frequency | ||
| c.223C>T | rs370866589 | ExAC: T=3.295e-05 | ESP: T=0.000077 | 1000GP: not reported |
Number of variants: 13
Exonic: 12
- Stopgain: 5
- Stoploss: 0
- Frameshift: 2
- Non synonymous: 3
- Synonymous: 0
Intronic: 3
- AG/GT: 3
- Consensus sequence: 0
- Intronic: 0
Gross deletions/duplications (whole gene and intragenic del/dupl): 0
- Gross deletions: 0
- Gross duplications:0
| c. position | p. position | exon/intron | rs number | GRCh37/hg19 | GRCh38/hg38 | other names | Interpretation | |
| GO! | c.211C>T | (p.Arg71*) | Exon 2 | rs532566349 | Chr14:70418966 | Chr14:69952249 | c.212C>T | Pathogenic |
| GO! | c.223C>T | (p.Arg75*) | Exon 2 | rs370866589 | Chr14:70418978 | Chr14:69952261 | c.224C>T | Pathogenic |
| GO! | c.274C>T | (p.Gln92*) | Exon 3 | rs781216969 | Chr14:70420145 | Chr14:69953428 | c.275C>T | Pathogenic |
| GO! | c.378+1G>T | — | Intron 3 | no rs number | Chr14:70420250 | Chr14:69953533 | — | Pathogenic |
| GO! | c.378+1G>A | — | Intron 3 | rs751356341 | Chr14:70420250 | Chr14:69953533 | — | Pathogenic |
| GO! | c.395dupA | (p.Tyr132fs*1) | Exon 4 | no rs number | Chr14:70442448 | Chr14:69975731 | — | Pathogenic |
| GO! | c.664+1G>A | — | Intron 7 | no rs number | Chr14:70461198 | Chr14:69994481 | — | Pathogenic |
| GO! | c.718C>T | (Gln240*) | Exon 8 | rs376672665 | Chr14:70477524 | Chr14:70010807 | — | Pathogenic |
| GO! | c.832C>T | (p.Arg278Cys) | Exon 8 | rs776638586 | Chr14:70477638 | Chr14:70010921 | c.833C>T | Pathogenic |
| GO! | c.848C>A | (p.Thr283Asn) | Exon 8 | no rs number | Chr14:70477654 | Chr14:70010937 | — | Pathogenic |
| GO! | c.857G>A | (p.Arg286His) | Exon 8 | no rs number | Chr14:70477663 | Chr14:70010946 | — | Pathogenic |
| GO! | c.910delG | (p.Asp305Metfs*59) | Exon 9 | no rs number | Chr14:70478254 | Chr14:70011537 | c.911delG | Pathogenic |
| GO! | c.1108C>T | (p.Gln370*) | Exon 11 | no rs number | Chr14:70489981 | Chr14:70023264 | c.1109C>T | Pathogenic |
disclaimer
The information reported in this database is based exclusively on current literature. We cannot garantuee that the content is updated everytime. The information is provided exclusively only for research purposes and the authors of these reviews are not responsible if the reported information is used for clinical diagnostics purposes.
