Cole-carpenter Syndrome 2; Clcrp2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Cole-carpenter Syndrome 2; Clcrp2

SEC24D

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Cole-carpenter Syndrome 2; Clcrp2

Short stature
Hypertelorism
High palate
Motor delay
Macrocephaly
Downslanted palpebral fissures
Frontal bossing
Ventriculomegaly
Hydrocephalus
Kyphosis

And another 23 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Cole-carpenter Syndrome 2; Clcrp2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Osteogenesis Imperfecta and Genetic Bone Disorders Panel. By Collagen Diagnostic Laboratory University of Washington (United States). BMP1, SEC24D, SPARC, TNFRSF11B, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, GORAB, TAPT1, ALPL , (...) View the complete list with 9 more genes Panel complete gene list BMP1, SEC24D, SPARC, TNFRSF11B, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, GORAB, TAPT1, ALPL, LRP5, P4HB, SERPINF1, PLOD2, PLOD3, PLS3, B3GAT3, PPIB, B4GALT7 Specificity 4 % Genes 100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States). BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL , (...) View the complete list with 8 more genes Panel complete gene list BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL, LRP5, NOTCH2, P4HB, SERPINF1, PHEX, PLOD2, PLS3, PPIB Specificity 4 % Genes 100 %
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SCN9A, BMP1, SEC24D, SLC2A2, SPARC, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, TENT5A, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, TAPT1 , (...) View the complete list with 6 more genes Panel complete gene list SCN9A, BMP1, SEC24D, SLC2A2, SPARC, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, TENT5A, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, TAPT1, ALPL, LRP5, SERPINF1, PLOD2, PLS3, PPIB Specificity 4 % Genes 100 %
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SCN9A, BMP1, SEC24D, SLC2A2, SPARC, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, TENT5A, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B , (...) View the complete list with 12 more genes Panel complete gene list SCN9A, BMP1, SEC24D, SLC2A2, SPARC, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, TENT5A, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, CYP27B1, TAPT1, DMP1, ENPP1, FGF23, ALPL, LRP5, SERPINF1, PHEX, PLOD2, PLS3, PPIB Specificity 4 % Genes 100 %
Cole-Carpenter syndrome Comprehensive panel. By Connective Tissue Gene Tests (United States). SEC24D, P4HB Specificity 50 % Genes 100 %
Cole-Carpenter syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). SEC24D, P4HB Specificity 50 % Genes 100 %
Cole-Carpenter syndrome NGS panel. By Connective Tissue Gene Tests (United States). SEC24D, P4HB Specificity 50 % Genes 100 %
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive. By Connective Tissue Gene Tests (United States). BMP1, SEC24D, SPARC, WNT1, MBTPS2, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, TAPT1, ANO5, ALPL, LRP5, P4HB, SERPINF1 , (...) View the complete list with 3 more genes Panel complete gene list BMP1, SEC24D, SPARC, WNT1, MBTPS2, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, TAPT1, ANO5, ALPL, LRP5, P4HB, SERPINF1, PLOD2, PLS3, PPIB Specificity 5 % Genes 100 %

You can get up to 11 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7 COLD-INDUCED SWEATING SYNDROME 2; CISS2 SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE; SMAFK MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH