Lethal Congenital Contracture Syndrome 7; Lccs7

Table of contents:

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

Description

Lethal congenital contracture syndrome-7, an axoglial form of arthrogryposis multiplex congenita, is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period (Laquerriere et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of lethal congenital contracture syndrome, see LCCS1 (OMIM ).

Genes related to Lethal Congenital Contracture Syndrome 7; Lccs7

CNTNAP1

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Clinical Features

Top most frequent phenotypes and symptoms related to Lethal Congenital Contracture Syndrome 7; Lccs7

Generalized hypotonia
Micrognathia
Cleft palate
Flexion contracture
Areflexia
Polyhydramnios
Paralysis
Arthrogryposis multiplex congenita
Decreased fetal movement
Knee flexion contracture

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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

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Lethal Congenital Contracture Syndrome 7; Lccs7 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 %