SMOC1 – NM_001034852.2:c.378+1G>T

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

c.378+1G>T intron 3

rs number / neighbourhood
no rs number
CTTTACCCAG[g/t]tgaggcctcg

Genomic Coordinates
GRCh37/hg19: chr14:70420250
GRCh38/hg38: chr14:69953533

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


Pathogenic for microphthalmia with limb anomalies

Reference: PMID: 21194680.


#1 PMID: 21194680.

Clinical Sign HPO ID
True anophthalmia Bilateral HP:0011478
Mild mental retardation HP:0001256
Broad lateral eyebrows HP:0011229
Sparse eyelashes HP:0000653
Short palpebral fissures HP:0012745
Malar flattening HP:0000272
High palate HP:0000218
Bilateral displacement of the thumb HP:0009603
Osseous finger syndactyly HP:0010492
Camptodactyly of finger (bilateral) HP:0100490
Absent ray in both feet HP:0030030
Sandal gap HP:0001852
Pes planus HP:0001763
Scoliosis (mild) HP:0002650
Carpal synostosis HP:0009702
Synostosis of carpals/tarsals HP:0100266

04-378_1a

 

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: 21194680.

Clinical Sign HPO ID
True anophthalmia Bilateral HP:0011478
Mild mental retardation HP:0001256
Broad lateral eyebrows HP:0011229
Sparse eyelashes HP:0000653
Short palpebral fissures HP:0012745
Malar flattening HP:0000272
High palate HP:0000218
Bilateral displacement of the thumb HP:0009603
Osseous finger syndactyly HP:0010492
Camptodactyly of finger (bilateral) HP:0100490
Absent ray in both feet HP:0030030
Sandal gap HP:0001852
Pes planus HP:0001763
Scoliosis (mild) HP:0002650
Carpal synostosis HP:0009702
Synostosis of carpals/tarsals HP:0100266

 

04-378_1b

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 Abouzeid and found in a homozygous state in both patients. The only available brother was a carrier for the variant. Unfortunately, it is not possible to determine if the carrier is the elder or the younger brother. The carrier symbol was drawn randomly for the younger brother, exclusively in order to remark that one of the brothers is a carrier.

 

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