Lethal Congenital Contracture Syndrome 9; Lccs9

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 Lethal Congenital Contracture Syndrome 9; Lccs9

ADGRG6

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Clinical Features

Top most frequent phenotypes and symptoms related to Lethal Congenital Contracture Syndrome 9; Lccs9

Scoliosis
Growth delay
Hypertelorism
Micrognathia
Abnormal facial shape
Low-set ears
Flexion contracture
Depressed nasal bridge
Hypertension
Intrauterine growth retardation

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— 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.

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Lethal Congenital Contracture Syndrome 9; Lccs9 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 0 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 1 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 2 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 3 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 4 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 5 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 6 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 %
Congenital Myasthenic Syndromes and Arthrogryposis Panel. By CeGaT GmbH (Germany). SCN4A, SNAP25, SYT2, TNNI2, TNNT3, TPM2, ADGRG6, SYNE1, FKBP10, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, ALG2, ADCY6, CHST14 , (...) View the complete list with 24 more genes Panel 7 complete gene list SCN4A, SNAP25, SYT2, TNNI2, TNNT3, TPM2, ADGRG6, SYNE1, FKBP10, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COLQ, ALG2, ADCY6, CHST14, ZC4H2, PIEZO2, DOK7, ALG14, DNM2, DPAGT1, PREPL, ECEL1, AGRN, ERBB3, FBN2, GFPT1, GLE1, LAMB2, LRP4, MUSK, MYBPC1, MYH3, MYH8, CNTNAP1, PIP5K1C, PLEC, PLOD2, RAPSN Specificity 3 % Genes 100 %