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DDG2P

Gene: PTPN11

Green List (high evidence)
PTPN11 (protein tyrosine phosphatase, non-receptor type 11)
EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 27 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PTPN11-related Noonan syndrome with multiple lentigines are definitive, monoallelic_autosomal and undetermined (PMIDs: 11992261, 12058348, 12161596, 14634749, 14961557, 14991917, 15121796, 15389709, 15520399, 16172598, 16358218, 16377799, 16679933, 16733669, 17697839, 17875892, 17927788, 19054014, 19659470, 19768645, 19864201, 21365175, 21677813, 21747628, 21910226, 22822385, 23799168, 24790373, 24820750, 25884655, 25917897, 26377839, 27484170, 33354767). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00841. The DDG2P confidence category, allelic requirement and molecular mechanism for PTPN11-related Noonan syndrome are definitive, monoallelic_autosomal and gain of function (PMIDs: 11704759, 11992261, 12161469, 12325025, 12357036, 12522798, 12529711, 12872825, 14974085, 15211660, 15240615, 15248152, 15384080, 15521065, 15889278, 15929108, 15956085, 15985475, 16078230, 16188759, 16358218, 16804314, 17052965, 17184563, 17194341, 17339163, 17361219, 17497712, 17515436, 18348260, 19449407, 19760651, 21269411, 21533187, 23312968, 24739123, 25974318, 30681346). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03310.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease NOONAN SYNDROME 1, OMIM:163950 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 12161469;19449407;12529711;12325025;15240615;11992261;15384080;11704759). The DDG2P confidence category for the disease LEOPARD SYNDROME TYPE 1, OMIM:151100 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 23799168;21747628;27484170;17875892;24790373;25884655;19659470;15520399;19054014;26377839;22822385;19768645;24820750;25917897;21677813;21365175;16733669;21910226;17927788;19864201).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
MONDO:0100082; LEOPARD SYNDROME TYPE 1, OMIM:151100; PTPN11-related Noonan syndrome; PTPN11-related Noonan syndrome with multiple lentigines; OMIM:151100.0; MONDO:0008104; NOONAN SYNDROME 1, OMIM:163950

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed (for all listed disorders). Multiple MOPs in DD-G2P download: activating, all missense/in frame.
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: PTPN11 was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene PTPN11 was changed from Other - please provide details in the comments to Other Publications for gene: PTPN11 were updated from 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261 to 19659470; 15520399; 21910226; 15384080; 24820750; 16733669; 12325025; 19864201; 22822385; 19768645; 19054014; 11992261; 23799168; 15240615; 27484170; 11704759; 24790373; 26377839; 25884655; 25917897; 17875892; 12529711; 12161469; 21365175; 19449407; 21747628; 21677813; 17927788

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes NOONAN SYNDROME 1 163950 for gene: PTPN11 Publications for gene PTPN11 were changed from to 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: PTPN11 was added gene: PTPN11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 151100 Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments