Arthrogryposis, Perthes Disease, And Upward Gaze Palsy; Apug

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 Arthrogryposis, Perthes Disease, And Upward Gaze Palsy; Apug

NEK9

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Clinical Features

Top most frequent phenotypes and symptoms related to Arthrogryposis, Perthes Disease, And Upward Gaze Palsy; Apug

Flexion contracture
Ventricular septal defect
Atrial septal defect
Camptodactyly
Arthrogryposis multiplex congenita
Pulmonic stenosis
Full cheeks
Asthma
Inflammatory abnormality of the skin
Joint contracture of the hand

And another 6 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.

Arthrogryposis, Perthes Disease, And Upward Gaze Palsy; Apug Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...) View the complete list with 37 more genes Panel complete gene list SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, SCARF2, SLC39A13, CNTN1, ANTXR2, COL3A1, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, ERCC6, FBN1, FBN2, GLE1, RIPK4, LMNA, MUSK, MYBPC1, MYH2, MYH3, MYH8, NEB, CNTNAP1, CHMP1A, PIP5K1C, PITX1, PLOD2, PLOD3, PSMB8, RAPSN Specificity 2 % Genes 100 %
Congenital contracture syndrome extended NGS panel. By Connective Tissue Gene Tests (United States). TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...) View the complete list with 11 more genes Panel complete gene list TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, FBN2, GLE1, LMNA, MUSK, MYBPC1, MYH3, MYH8, CNTNAP1, PIP5K1C, RAPSN Specificity 4 % Genes 100 %
Congenital contracture syndrome extended Comprehensive panel. By Connective Tissue Gene Tests (United States). TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...) View the complete list with 11 more genes Panel complete gene list TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, FBN2, GLE1, LMNA, MUSK, MYBPC1, MYH3, MYH8, CNTNAP1, PIP5K1C, RAPSN Specificity 4 % Genes 100 %
Congenital contracture syndrome extended Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...) View the complete list with 11 more genes Panel complete gene list TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42, ERBB3, FBN2, GLE1, LMNA, MUSK, MYBPC1, MYH3, MYH8, CNTNAP1, PIP5K1C, RAPSN Specificity 4 % Genes 100 %
Lethal congenital contracture syndrome and related disorders Comprehensive Panel. By Connective Tissue Gene Tests (United States). VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...) View the complete list with 2 more genes Panel complete gene list VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1, PIP5K1C, RAPSN Specificity 5 % Genes 100 %
Lethal congenital contracture syndrome and related disorders NGS Panel. By Connective Tissue Gene Tests (United States). VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...) View the complete list with 2 more genes Panel complete gene list VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1, PIP5K1C, RAPSN Specificity 5 % Genes 100 %
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel. By Connective Tissue Gene Tests (United States). VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...) View the complete list with 2 more genes Panel complete gene list VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1, PIP5K1C, RAPSN Specificity 5 % Genes 100 %
NEK9. By Fulgent Genetics Fulgent Genetics (United States). NEK9 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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