Legius Syndrome

Table of contents:

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

Description

Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

Genes related to Legius Syndrome

SPRED1

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Clinical Features

Top most frequent phenotypes and symptoms related to Legius Syndrome

Generalized hypotonia
Hypertelorism
Neoplasm
Micrognathia
Abnormal facial shape
Ptosis
High palate
Epicanthus
Macrocephaly
Downslanted palpebral fissures

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available LEGIUS SYNDROME have a estimated birth prevalence of 2.2 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

Legius Syndrome Is also known as nfls, neurofibromatosis type 1-like syndrome, nf1-like syndrome, neurofibromatosis 1-like syndrome.

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.

Legius Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS RASopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...) View the complete list with 3 more genes Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2 Specificity 5 % Genes 100 %
NF1-Like/Legius Syndrome. By Center for Human Genetics, Inc (United States). SPRED1 Specificity 100 % Genes 100 %
SPRED1 sequencing. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). SPRED1 Specificity 100 % Genes 100 %
SPRED1 Deletion/Duplication analysis. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). SPRED1 Specificity 100 % Genes 100 %
Noonan Spectrum Disorders Panel. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). RIT1, BRAF, SOS1, CBL, SHOC2, SPRED1, A2ML1, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1 Specificity 8 % Genes 100 %
Legius Syndrome - SPRED1 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). SPRED1 Specificity 100 % Genes 100 %
Rasopathy NextGen Panel. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States). RIT1, RRAS, BRAF, SOS1, SOS2, ACTB, ACTG1, CBL, SHOC2, SPRED1, A2ML1, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PPP1CB, PTPN11, RAF1 , (...) View the complete list with 1 more genes Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, ACTB, ACTG1, CBL, SHOC2, SPRED1, A2ML1, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PPP1CB, PTPN11, RAF1, RASA2 Specificity 5 % Genes 100 %
Cardiomyopathy Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...) View the complete list with 92 more genes Panel complete gene list RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2, MED12, TPM1, TTN, TTR, VCL, ACTA2, MYOZ2, SLC2A10, CACNA1C, CACNB2, JPH2, ACTC1, CAV3, CBL, SHOC2, CBS, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, HCN4, NEBL, TRPM4, TXNRD2, SPRED1, SCN3B, PDLIM3, COL3A1, COL5A1, COL5A2, COX15, MYPN, CRYAB, CSRP3, CTF1, RBM20, DES, TMEM43, GPD1L, DMD, NEXN, GATAD1, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FBN2, FKTN, FLNA, AKAP9, FXN, GAA, GLA, ANK2, HRAS, ABCC9, ILK, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, KRAS, LAMA4, LAMP2, LMNA, SMAD3, MAP2K1, MAP2K2, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, NOTCH1, NRAS, PKP2, PLN, PLOD1, PRKAG2, BAG3, PTPN11, RAF1 Specificity 1 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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