Kleefstra Syndrome 2; Klefs2

Table of contents:

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

Description

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Genes related to Kleefstra Syndrome 2; Klefs2

KMT2C

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Clinical Features

Top most frequent phenotypes and symptoms related to Kleefstra Syndrome 2; Klefs2

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly
Scoliosis
Hypertelorism
Abnormal facial shape
Ptosis

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

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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.

Kleefstra Syndrome 2; Klefs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Solid Tumor Panel. By Centogene AG - the Rare Disease Company (Germany). ROS1, BRAF, SMARCA4, SMARCB1, ARID1A, SMO, STK11, TP53, TSC1, KDM6A, VHL, KMT2C, CDH1, CDK4, CDKN2A, ASXL1, CTNNB1, DDR2, EGFR, ERBB2 , (...) View the complete list with 41 more genes Panel complete gene list ROS1, BRAF, SMARCA4, SMARCB1, ARID1A, SMO, STK11, TP53, TSC1, KDM6A, VHL, KMT2C, CDH1, CDK4, CDKN2A, ASXL1, CTNNB1, DDR2, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, FGFR4, AKT1, MTOR, ALK, GNA11, GNAQ, GNAS, HRAS, IDH1, IDH2, APC, JAK2, JAK3, KDR, KIT, KRAS, AR, SMAD4, MAP2K1, MET, MLH1, KMT2D, ABL1, NF1, NOTCH1, ATM, NRAS, NTRK3, PDGFRA, PDGFRB, PIK3CA, PIK3R1, AXL, PTCH1, PTEN, PTPN11, RB1, RET Specificity 2 % Genes 100 %
KMT2C. By Fulgent Genetics Fulgent Genetics (United States). KMT2C Specificity 100 % Genes 100 %
Focus::MCL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States). SALL3, SI, SMARCA4, BTK, TLR2, TP53, TRAF2, NSD2, XPO1, KMT2C, CCND1, UBR5, CD79B, POT1, CDKN2A, SOCS1, COL16A1, FAT4, CTNNA2, TET2 , (...) View the complete list with 14 more genes Panel complete gene list SALL3, SI, SMARCA4, BTK, TLR2, TP53, TRAF2, NSD2, XPO1, KMT2C, CCND1, UBR5, CD79B, POT1, CDKN2A, SOCS1, COL16A1, FAT4, CTNNA2, TET2, DLC1, EZH2, GRIN2A, BIRC3, IKBKB, ABCC9, KDR, KMT2D, MYD88, NOTCH1, ATM, PIK3CD, PLCG2, PTEN Specificity 3 % Genes 100 %
Focus::Lymphoma™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States). BCL6, SGK1, BRAF, ARID1A, BTK, STAT3, STAT6, SYK, TNFAIP3, FAS, TP53, IKZF1, IKZF3, KMT2C, CCND1, CCND3, CARD11, CD79A, CD79B, CDKN2A , (...) View the complete list with 28 more genes Panel complete gene list BCL6, SGK1, BRAF, ARID1A, BTK, STAT3, STAT6, SYK, TNFAIP3, FAS, TP53, IKZF1, IKZF3, KMT2C, CCND1, CCND3, CARD11, CD79A, CD79B, CDKN2A, CDKN2B, SOCS1, CREBBP, TET2, EP300, EZH2, FOXO1, MTOR, GNA13, GNAI2, IRF8, IRF4, KRAS, CIITA, KMT2D, MYC, MYD88, NOTCH1, NOTCH2, ATM, PIK3CD, PIM1, PLCG2, B2M, PRDM1, PRKDC, PTEN, BCL10 Specificity 3 % Genes 100 %
Solid Tumor Gene Set. By Genomics and Pathology Services Washington University in St. Louis (United States). RIT1, ROS1, RXRA, FOXL2, BRAF, BRCA1, BRCA2, SMARCA4, SMARCB1, KDM5C, SOS1, STK11, TEK, TERT, TGFBR2, MED12, TP53, TSC1, TSC2, VHL , (...) View the complete list with 100 more genes Panel complete gene list RIT1, ROS1, RXRA, FOXL2, BRAF, BRCA1, BRCA2, SMARCA4, SMARCB1, KDM5C, SOS1, STK11, TEK, TERT, TGFBR2, MED12, TP53, TSC1, TSC2, VHL, WT1, KMT2C, SHOC2, CCND1, FBXW7, RAD54B, CDH1, CDK6, CDKN1A, CDKN1B, CDKN2A, SETD2, SPRED1, TRAF7, BRIP1, KEAP1, CREBBP, CDK12, CSF1R, CTNNB1, PALB2, DAXX, DDR2, PBRM1, EGFR, ERBB2, ERBB3, ERBB4, ERCC2, ESR2, FANCA, FAT1, FGFR1, FGFR2, FGFR3, FGFR4, FLT1, FLT3, FLT4, AKT1, AKT2, AKT3, MTOR, GATA4, ALK, GNAS, H3F3A, HIST1H3B, HRAS, IDH1, IDH2, APC, JAK1, JAK2, KDR, KIT, KLF4, KRAS, AR, AFF3, SMAD2, SMAD4, MAP2K1, MAP2K2, MAP3K3, MCL1, MET, MLH1, KMT2D, MN1, MYB, MYBL1, MYC, ABL1, NF1, NF2, NFE2L2, NOTCH1, NOTCH2, ATM, NRAS, NTRK1, NTRK2, PDGFRA, PDGFRB, ATRX, PIK3C2B, PIK3CA, PIK3R1, PIK3R2, POLD1, POLE, PPARG, PPP2R1A, BAP1, PTEN, RAF1, RB1, BCL2L1, RET Specificity 1 % Genes 100 %
Melanoma Gene Set. By Genomics and Pathology Services Washington University in St. Louis (United States). ROS1, BRAF, TERT, MED12, TP53, KMT2C, CCND1, CDK4, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, AKT1, MTOR, ALK, GNA11 , (...) View the complete list with 18 more genes Panel complete gene list ROS1, BRAF, TERT, MED12, TP53, KMT2C, CCND1, CDK4, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, AKT1, MTOR, ALK, GNA11, GNAQ, HRAS, KIT, KRAS, MAP2K1, MAP2K2, MET, KMT2D, NF1, NRAS, PDGFRA, PDGFRB, PIK3CA, BAP1, PTEN, RAC1, RB1, RET Specificity 3 % Genes 100 %
Genitourinary Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis (United States). RXRA, BRAF, BRCA1, BRCA2, KDM5C, STAG2, TERT, MED12, TP53, TSC1, TSC2, KDM6A, VHL, KMT2C, FBXW7, CDKN1A, CDKN2A, SETD2, CREBBP, PBRM1 , (...) View the complete list with 24 more genes Panel complete gene list RXRA, BRAF, BRCA1, BRCA2, KDM5C, STAG2, TERT, MED12, TP53, TSC1, TSC2, KDM6A, VHL, KMT2C, FBXW7, CDKN1A, CDKN2A, SETD2, CREBBP, PBRM1, EGFR, ERBB2, ERBB3, ERCC2, FGFR2, FGFR3, AKT1, AKT2, AKT3, MTOR, HRAS, AR, MET, MLH1, KMT2D, NF1, ATM, NRAS, PIK3CA, PIK3R1, PPARG, BAP1, PTCH1, PTEN Specificity 3 % Genes 100 %
Head & Neck Tumors Gene Set. By Genomics and Pathology Services Washington University in St. Louis (United States). BRCA1, BRCA2, TGFBR2, TP53, KDM6A, KMT2C, NSD1, CCND1, FBXW7, CDKN2A, ASXL1, EGFR, EP300, ERBB2, FAT1, AKT1, AKT2, AKT3, MTOR, GATA4 , (...) View the complete list with 21 more genes Panel complete gene list BRCA1, BRCA2, TGFBR2, TP53, KDM6A, KMT2C, NSD1, CCND1, FBXW7, CDKN2A, ASXL1, EGFR, EP300, ERBB2, FAT1, AKT1, AKT2, AKT3, MTOR, GATA4, HRAS, APC, KRAS, AFF3, RHOA, SMAD4, MCL1, KMT2D, NF1, NFE2L2, NOTCH1, NOTCH2, ATM, NRAS, PIK3C2B, PIK3CA, PIK3R1, PTEN, RAC1, RB1, BCL2L1 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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