Noonan Syndrome(MAP2K1-Related Noonan Syndrome) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | SHOC2/8036 | SHOC2 leucine rich repeat scaffold protein | 10q25.2 | Chr10, NC_000010.11 (110919370..111013665) |
94296 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | RRAS2/22800 | RAS related 2 | 11p15.2 | Chr11, NC_000011.10 (14277920..14364506, complement) |
86587 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | KRAS/3845 | KRAS proto-oncogene, GTPase | 12p12.1 | Chr12, NC_000012.12 (25205246..25250929, complement) |
45684 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | SOS1/6654 | SOS Ras/Rac guanine nucleotide exchange factor 1 | 2p22.1 | Chr2, NC_000002.12 (38981549..39124868, complement) |
143320 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | PTPN11/5781 | protein tyrosine phosphatase non-receptor type 11 | 12q24.13 | Chr12, NC_000012.12 (112418947..112509918) |
90972 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | CBL/867 | Cbl proto-oncogene | 11q23.3 | Chr11, NC_000011.10 (119206339..119308149) |
101811 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | NRAS/4893 | NRAS proto-oncogene, GTPase | 1p13.2 | Chr1, NC_000001.11 (114704469..114716771, complement) |
12303 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | RAF1/5894 | Raf-1 proto-oncogene, serine/threonine kinase | 3p25.2 | Chr3, NC_000003.12 (12583601..12664117, complement) |
80517 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | BRAF/673 | B-Raf proto-oncogene, serine/threonine kinase | 7q34 | Chr7, NC_000007.14 (140713328..140924929, complement) |
211602 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | RIT1/6016 | Ras like without CAAX 1 | 1q22 | Chr1, NC_000001.11 (155897808..155911349, complement) |
13542 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | SPRED1/161742 | sprouty related EVH1 domain containing 1 | 15q14 | Chr15, NC_000015.10 (38252836..38357249) |
104414 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | LZTR1/8216 | leucine zipper like post translational regulator 1 | 22q11.21 | Chr22, NC_000022.11 (20982297..20999032) |
16736 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | SOS2/6655 | SOS Ras/Rho guanine nucleotide exchange factor 2 | 14q21.3 | Chr14, NC_000014.9 (50117130..50231882, complement) |
114753 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 14 | PPP1CB/5500 | protein phosphatase 1 catalytic subunit beta | 2p23.2 | Chr2, NC_000002.12 (28751604..28802940) |
51337 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 15 | MAP2K1/5604 | mitogen-activated protein kinase kinase 1 | 15q22.31 | Chr15, NC_000015.10 (66386912..66491544) |
104633 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 16 | A2ML1/144568 | alpha-2-macroglobulin like 1 | 12p13.31 | Chr12, NC_000012.12 (8822621..8887459) |
64839 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 17 | RRAS/6237 | RAS related | 19q13.33 | Chr19, NC_000019.10 (49635292..49640143, complement) |
4852 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 18 | MRAS/22808 | muscle RAS oncogene homolog | 3q22.3 | Chr3, NC_000003.12 (138347648..138405535) |
57888 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 19 | GJB2/2706 | gap junction protein beta 2 | 13q12.11 | Chr13, NC_000013.11 (20187470..20192938, complement) |
5469 nt | 2 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 20 | MAPK1/5594 | mitogen-activated protein kinase 1 | 22q11.22 | Chr22, NC_000022.11 (21759657..21867680, complement) |
108024 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 21 | CLTC/1213 | clathrin heavy chain | 17q23.1 | Chr17, NC_000017.11 (59619895..59696956) |
77062 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 22 | SPRED2/200734 | sprouty related EVH1 domain containing 2 | 2p14 | Chr2, NC_000002.12 (65307175..65432599, complement) |
125425 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 23 | MAP2K2/5605 | mitogen-activated protein kinase kinase 2 | 19p13.3 | Chr19, NC_000019.10 (4090321..4124122, complement) |
33802 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 24 | RASA2/5922 | RAS p21 protein activator 2 | 3q23 | Chr3, NC_000003.12 (141487027..141615344) |
128318 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |