SMOC1 – NM_001034852.2:c.718C>T

SMOC1
OMIM: *608488
14q24.2 – NM_001034852.2

c.718C>T (Gln240*) exon 8

rs number / neighbourhood
rs376672665
AGAGGCCCAG[C/T]AGAATCCCCG

Genomic Coordinates
GRCh37/hg19: chr14:70477524
GRCh38/hg38: chr14:70010807

Frequency
ExAC: not reported
1000GP: not reported
ESP: not reported

The variant has been reported in ClinVar as pathogenic for anophthalmos with limb anomalies (Variation ID: 30726)

The variant has been reported in the OMIM Allelic Variants List for the SMOC1 gene (.0001)


Pathogenic for microphthalmia with limb anomalies

Reference:PMID: 21194678, PMID: 19208380.


#1 PMID: 21194678, PMID: 19208380.

Clinical Sign HPO ID
True anophthalmia (bilateral) HP:0011478
Upper limbs, Metacarpal synostosis (bilateral) HP:0009701
Upper limbs, clinodactyly HP:0040019
Upper limbs, campodactyly HP:0100490
Upper limbs, Simian crease HP:0000954
Lower limbs, Oligodactyly HP:0001849
Lower limbs, metatarsal synostosis HP:0001440
Bowed tibia HP:0002982
Hypoplastic fibula HP:0003038
Sandal gap HP:0001852
2-3 toe cutaneous syndactyly HP:0005709
Pes valgus HP:0004684
Failure to thrive HP:0001508
Mental retardation HP:0001249
Cryptorchidism HP:0000028

 

08-c-718okinawa1

 

black Affected individual – variant in a homozygous state
unknow-affected Affected individual – genotype unknown
carrier Not affected individual – variant in a heterozygous state (carrrier)
unknown-healthy Not affected individual – genotype unknown
healthy-novar Not affected individual – the variant is not present

#2 PMID: 21194678, PMID: 19208380.

Clinical Sign HPO ID
True anophthalmia (bilateral) HP:0011478
Upper limbs, Metacarpal synostosis (bilateral) HP:0009701
Upper limbs, Simian crease HP:0000954
Lower limbs, Oligodactyly HP:0001849
Lower limbs, metatarsal synostosis HP:0001440
Bowed tibia HP:0002982
Hypoplastic fibula HP:0003038
Sandal gap HP:0001852
2-3 toe cutaneous syndactyly HP:0005709
Failure to thrive HP:0001508
Mental retardation HP:0001249

 

08-c-718okinawa2

black Affected individual – variant in a homozygous state
unknow-affected Affected individual – genotype unknown
carrier Not affected individual – variant in a heterozygous state (carrrier)
unknown-healthy Not affected individual – genotype unknown
healthy-novar Not affected individual – the variant is not present

Additional notes

The variant has been detected in Okada and found in a homozygous state in both patients. The patient was firstly reviewed by Hamanoue.

 

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