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DDG2P v3.11 TMX2 Achchuthan Shanmugasundram gene: TMX2 was added
gene: TMX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMX2 were set to 31735293
Phenotypes for gene: TMX2 were set to Primary microcephaly, cortical malformation and epileptic encephalopathy
DDG2P v3.11 TMTC3 Achchuthan Shanmugasundram Source Expert Review Green was added to TMTC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TMPRSS6 Achchuthan Shanmugasundram Publications for gene: TMPRSS6 were updated from 19592582; 19357398; 18596229; 18408718 to 19357398; 18408718; 19592582; 18596229
DDG2P v3.11 TMEM94 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM94.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TMEM70 Achchuthan Shanmugasundram Publications for gene: TMEM70 were updated from 18953340; 21147908 to 21147908; 18953340
DDG2P v3.11 TMEM67 Achchuthan Shanmugasundram Publications for gene: TMEM67 were updated from 19508969 to 19508969; 17377820; 16415887
DDG2P v3.11 TMEM63C Achchuthan Shanmugasundram gene: TMEM63C was added
gene: TMEM63C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM63C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM63C were set to 35718349
Phenotypes for gene: TMEM63C were set to TMEM63C-associated hereditary spastic paraplegia
DDG2P v3.11 TMEM63A Achchuthan Shanmugasundram gene: TMEM63A was added
gene: TMEM63A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM63A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM63A were set to 31587869
Phenotypes for gene: TMEM63A were set to Transient Hypomyelination during Infancy
Mode of pathogenicity for gene: TMEM63A was set to Other
DDG2P v3.11 TMEM5 Achchuthan Shanmugasundram Publications for gene: TMEM5 were updated from 23217329; 23519211 to 23519211; 23217329
DDG2P v3.11 TMEM260 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM260.
Publications for gene: TMEM260 were updated from 28318500; 34612517 to 34612517; 28318500
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TMEM251 Achchuthan Shanmugasundram gene: TMEM251 was added
gene: TMEM251 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156
Phenotypes for gene: TMEM251 were set to TMEM251-related skeletal dysplasia
DDG2P v3.11 TMEM240 Achchuthan Shanmugasundram gene: TMEM240 was added
gene: TMEM240 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM240 were set to 30522958; 25070513; 29687291; 32705938; 26813285
Phenotypes for gene: TMEM240 were set to TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454
DDG2P v3.11 TMEM237 Achchuthan Shanmugasundram Publications for gene: TMEM237 were updated from 22152675; 14760273; 17603801 to 17603801; 14760273; 22152675
DDG2P v3.11 TMEM222 Achchuthan Shanmugasundram gene: TMEM222 was added
gene: TMEM222 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM222 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM222 were set to 33824500
Phenotypes for gene: TMEM222 were set to TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470
DDG2P v3.11 TMEM218 Achchuthan Shanmugasundram gene: TMEM218 was added
gene: TMEM218 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 35137054; 33791682
Phenotypes for gene: TMEM218 were set to TMEM218-associated ciliopathy
DDG2P v3.11 TMEM216 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM216.
Mode of pathogenicity for gene TMEM216 was changed from Other - please provide details in the comments to Other
Publications for gene: TMEM216 were updated from 20036350; 20512146 to 20512146; 20036350
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TMEM199 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM199.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TMEM163 Achchuthan Shanmugasundram gene: TMEM163 was added
gene: TMEM163 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM163 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM163 were set to 35953447; 35455965
Phenotypes for gene: TMEM163 were set to TMEM163-related hypomyelinating leukodystrophy
Mode of pathogenicity for gene: TMEM163 was set to Other
DDG2P v3.11 TMEM147 Achchuthan Shanmugasundram gene: TMEM147 was added
gene: TMEM147 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM147 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM147 were set to 36044892
Phenotypes for gene: TMEM147 were set to TMEM147-related developmental disorder
DDG2P v3.11 TMEM135 Achchuthan Shanmugasundram Mode of pathogenicity for gene TMEM135 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 TMEM114 Achchuthan Shanmugasundram Publications for gene: TMEM114 were updated from 17492639 to 24357539; 17492639
DDG2P v3.11 TMEM106B Achchuthan Shanmugasundram gene: TMEM106B was added
gene: TMEM106B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TMEM106B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM106B were set to 29444210; 29186371
Phenotypes for gene: TMEM106B were set to TMEM106B related hypomyelinating leukodystrophy
Mode of pathogenicity for gene: TMEM106B was set to Other
DDG2P v3.11 TLL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene TLL1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 TLK2 Achchuthan Shanmugasundram Source Expert Review Green was added to TLK2.
Publications for gene: TLK2 were updated from 27479843 to 27479843; 29861108
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 TKT Achchuthan Shanmugasundram Source Expert Review Green was added to TKT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TKFC Achchuthan Shanmugasundram gene: TKFC was added
gene: TKFC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: TKFC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TKFC were set to 32004446
Phenotypes for gene: TKFC were set to TKFC-related Cataracts and Multisystem Disease
DDG2P v3.11 TK2 Achchuthan Shanmugasundram Mode of pathogenicity for gene TK2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 TIMM8A Achchuthan Shanmugasundram Publications for gene: TIMM8A were updated from to 31903733
DDG2P v3.11 THUMPD1 Achchuthan Shanmugasundram gene: THUMPD1 was added
gene: THUMPD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: THUMPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THUMPD1 were set to 35196516
Phenotypes for gene: THUMPD1 were set to THUMPD1 neurodevelopment disorder
DDG2P v3.11 THRA Achchuthan Shanmugasundram Publications for gene: THRA were updated from 22168587; 22494134 to 22494134; 22168587
DDG2P v3.11 THOC6 Achchuthan Shanmugasundram Publications for gene: THOC6 were updated from 27295358; 23621916; 26739162 to 23621916; 26739162; 27295358
DDG2P v3.11 THOC2 Achchuthan Shanmugasundram Source Expert Review Green was added to THOC2.
Mode of pathogenicity for gene THOC2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 THG1L Achchuthan Shanmugasundram gene: THG1L was added
gene: THG1L was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: THG1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THG1L were set to 30214071; 27307223; 31168944; 33682303
Phenotypes for gene: THG1L were set to THG1L-associated cerebellar ataxia, OMIM:618800
Mode of pathogenicity for gene: THG1L was set to Other
DDG2P v3.11 THAP1 Achchuthan Shanmugasundram Publications for gene: THAP1 were updated from to 30237473
DDG2P v3.11 TH Achchuthan Shanmugasundram Publications for gene: TH were updated from 17696123; 8528210; 7814018; 9703425; 10585338; 21937992; 8817341; 9732974; 11246459 to 21937992; 10585338; 11246459; 8817341; 9703425; 17696123; 8528210; 9732974; 7814018
DDG2P v3.11 TGFBR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene TGFBR1 was changed from Other - please provide details in the comments to Other
Publications for gene: TGFBR1 were updated from 16791849; 16928994; 18070134 to 16791849; 16928994; 18070134; 16596670; 15731757
DDG2P v3.11 TGFB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene TGFB1 was changed from Other - please provide details in the comments to Other
Publications for gene: TGFB1 were updated from 10973241; 15103729; 11062463 to 11062463; 15103729; 10973241
DDG2P v3.11 TFRC Achchuthan Shanmugasundram Mode of pathogenicity for gene TFRC was changed from Other - please provide details in the comments to Other
DDG2P v3.11 TFE3 Achchuthan Shanmugasundram gene: TFE3 was added
gene: TFE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TFE3 were set to 30595499; 33057194; 32409512; 31833172
Phenotypes for gene: TFE3 were set to TFE3-related intellectual disability with pigmentary mosaicism; Intellectual disability with pigmentary mosaicism and storage disorder
Mode of pathogenicity for gene: TFE3 was set to Other
DDG2P v3.11 TFAP2B Achchuthan Shanmugasundram Mode of pathogenicity for gene TFAP2B was changed from Other - please provide details in the comments to Other
Publications for gene: TFAP2B were updated from 11505339; 10802654; 7645594 to 10802654; 11505339; 7645594
DDG2P v3.11 TFAP2A Achchuthan Shanmugasundram Mode of pathogenicity for gene TFAP2A was changed from Other - please provide details in the comments to Other
Publications for gene: TFAP2A were updated from to 31490282
DDG2P v3.11 TET3 Achchuthan Shanmugasundram gene: TET3 was added
gene: TET3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TET3 were set to 31928709
Phenotypes for gene: TET3 were set to TET3 DNA Demethylation Disorder biallelic; TET3 DNA Demethylation Disorder monoallelic
DDG2P v3.11 TERT Achchuthan Shanmugasundram Mode of pathogenicity for gene TERT was changed from Other - please provide details in the comments to Other
DDG2P v3.11 TERC Achchuthan Shanmugasundram Source Expert Review Green was added to TERC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TELO2 Achchuthan Shanmugasundram Source Expert Review Green was added to TELO2.
Mode of pathogenicity for gene TELO2 was changed from Other - please provide details in the comments to Other
Publications for gene: TELO2 were updated from 27132593; 28944240 to 27132593; 36797513; 28944240
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TEK Achchuthan Shanmugasundram Mode of pathogenicity for gene TEK was changed from Other - please provide details in the comments to Other
Publications for gene: TEK were updated from 19888299; 7833915; 10369874 to 7833915; 10369874; 19888299
DDG2P v3.11 TECPR2 Achchuthan Shanmugasundram Source Expert Review Green was added to TECPR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TDRD7 Achchuthan Shanmugasundram Mode of pathogenicity for gene TDRD7 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 TCTN2 Achchuthan Shanmugasundram Source Expert Review Green was added to TCTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TCTN1 Achchuthan Shanmugasundram Source Expert Review Green was added to TCTN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TCOF1 Achchuthan Shanmugasundram Publications for gene: TCOF1 were updated from 15039977; 11013442; 9096354; 8563749; 12114482; 15214011; 14598341 to 15039977; 14598341; 9096354; 15214011; 8563749; 11013442; 12114482
DDG2P v3.11 TCF7L2 Achchuthan Shanmugasundram gene: TCF7L2 was added
gene: TCF7L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TCF7L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF7L2 were set to 34003604; 33057194
Phenotypes for gene: TCF7L2 were set to TCF7L2-related developmental disorder (monoallelic)
DDG2P v3.11 TCF4 Achchuthan Shanmugasundram Publications for gene: TCF4 were updated from 17436254; 17436255; 18728071 to 29604340; 17436254; 22670824; 20184619; 18728071; 19938247; 17436255; 22045651; 20205897; 27132474; 30848346; 29695756; 23528641; 19235238
DDG2P v3.11 TCF20 Achchuthan Shanmugasundram Publications for gene: TCF20 were updated from 28135719; 25228304; 27436265 to 30819258; 25228304; 30739909; 28135719; 27436265
DDG2P v3.11 TCF12 Achchuthan Shanmugasundram Publications for gene: TCF12 were updated from 23354436 to 23354436; 33004838
DDG2P v3.11 TCEAL1 Achchuthan Shanmugasundram gene: TCEAL1 was added
gene: TCEAL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TCEAL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: TCEAL1 were set to 36368327
Phenotypes for gene: TCEAL1 were set to TCEAL1-related neurodevelopmental disorder
Mode of pathogenicity for gene: TCEAL1 was set to Other
DDG2P v3.11 TBXAS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene TBXAS1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 TBX4 Achchuthan Shanmugasundram Publications for gene: TBX4 were updated from 11303519; 15106123 to 11303519; 15106123; 31761294
DDG2P v3.11 TBX3 Achchuthan Shanmugasundram Publications for gene: TBX3 were updated from 19938096; 9207801; 12116211; 12668170 to 9207801; 19938096; 12668170; 12116211
DDG2P v3.11 TBX20 Achchuthan Shanmugasundram Publications for gene: TBX20 were updated from 17668378; 19762328 to 19762328; 17668378
DDG2P v3.11 TBX18 Achchuthan Shanmugasundram Source Expert Review Green was added to TBX18.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TBX15 Achchuthan Shanmugasundram Publications for gene: TBX15 were updated from 19068278; 24039145 to 24039145; 19068278
DDG2P v3.11 TBR1 Achchuthan Shanmugasundram Source Expert Review Green was added to TBR1.
Publications for gene: TBR1 were updated from 23160955 to 25232744; 23160955; 30268909; 32005960
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TBL1XR1 Achchuthan Shanmugasundram Publications for gene: TBL1XR1 were updated from 28687524; 26769062; 30365874 to 25425123; 25102098; 29777588; 30365874; 26769062; 28687524; 23160955
DDG2P v3.11 TBCK Achchuthan Shanmugasundram Publications for gene: TBCK were updated from 27040692; 27748029; 27040691 to 27748029; 27040691; 27040692
DDG2P v3.11 TBCE Achchuthan Shanmugasundram Publications for gene: TBCE were updated from 27666369 to 12389028; 27666369
DDG2P v3.11 TBC1D2B Achchuthan Shanmugasundram gene: TBC1D2B was added
gene: TBC1D2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TBC1D2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D2B were set to 36029130; 32623794
Phenotypes for gene: TBC1D2B were set to TBC1D2B-related neurodevelopmental disorder
DDG2P v3.11 TBC1D24 Achchuthan Shanmugasundram Publications for gene: TBC1D24 were updated from 24291220 to 20727515; 10741954; 24291220; 20797691
DDG2P v3.11 TBC1D20 Achchuthan Shanmugasundram Source Expert Review Green was added to TBC1D20.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TASP1 Achchuthan Shanmugasundram gene: TASP1 was added
gene: TASP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TASP1 were set to 35512351; 31209944
Phenotypes for gene: TASP1 were set to TASP1-related neurodevelopmental disorder
DDG2P v3.11 TARS Achchuthan Shanmugasundram Source Expert Review Green was added to TARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TAPT1 Achchuthan Shanmugasundram Source Expert Review Green was added to TAPT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TAOK1 Achchuthan Shanmugasundram Publications for gene: TAOK1 were updated from 31230721 to 31230721; 33565190
DDG2P v3.11 TANC2 Achchuthan Shanmugasundram gene: TANC2 was added
gene: TANC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TANC2 were set to 31616000
Phenotypes for gene: TANC2 were set to TANC2-related neurodevelopmental and psychiatric disorders
DDG2P v3.11 TAF8 Achchuthan Shanmugasundram gene: TAF8 was added
gene: TAF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF8 were set to 35759269
Phenotypes for gene: TAF8 were set to TAF8-associated neurodevelopmental disorder
DDG2P v3.11 TAF4 Achchuthan Shanmugasundram Source DD-Gene2Phenotype was added to TAF4.
Source Expert Review Red was added to TAF4.
Mode of inheritance for gene TAF4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes TAF4-related neurodevelopmental disorder for gene: TAF4
Publications for gene: TAF4 were updated from 33875846 to 35904126; 33875846
Rating Changed from No List (delete) to Red List (low evidence)
DDG2P v3.11 TAF2 Achchuthan Shanmugasundram Mode of pathogenicity for gene TAF2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 TAF13 Achchuthan Shanmugasundram Source Expert Review Green was added to TAF13.
Mode of pathogenicity for gene TAF13 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TACR3 Achchuthan Shanmugasundram Source Expert Review Green was added to TACR3.
Mode of pathogenicity for gene TACR3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TACO1 Achchuthan Shanmugasundram Source Expert Review Green was added to TACO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TAC3 Achchuthan Shanmugasundram Source Expert Review Green was added to TAC3.
Mode of pathogenicity for gene TAC3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 TAB2 Achchuthan Shanmugasundram Mode of pathogenicity for gene TAB2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SZT2 Achchuthan Shanmugasundram Source Expert Review Green was added to SZT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SYT2 Achchuthan Shanmugasundram gene: SYT2 was added
gene: SYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYT2 were set to 32250532; 32776697
Phenotypes for gene: SYT2 were set to SYT2-related congenital onset presynaptic myasthenic syndrome
DDG2P v3.11 SYT1 Achchuthan Shanmugasundram Source Expert Review Green was added to SYT1.
Mode of pathogenicity for gene SYT1 was changed from Other - please provide details in the comments to Other
Publications for gene: SYT1 were updated from 25705886 to 30107533; 25705886
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 SYNGAP1 Achchuthan Shanmugasundram Publications for gene: SYNGAP1 were updated from 23033978; 19196676; 23161826; 21237447; 23141534 to 30685520; 26110312; 23141534; 26079862; 23161826; 30572772; 21237447; 19196676; 23033978; 28721930; 30800045; 28576131; 26989088; 31395010; 30556619; 23708187; 29381230
DDG2P v3.11 SYNCRIP Achchuthan Shanmugasundram gene: SYNCRIP was added
gene: SYNCRIP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SYNCRIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SYNCRIP were set to SYNCRIP-related developmental disorder (monoallelic)
DDG2P v3.11 SYN1 Achchuthan Shanmugasundram Source Expert Review Green was added to SYN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SUZ12 Achchuthan Shanmugasundram Publications for gene: SUZ12 were updated from 30019515; 28229514 to 28229514; 30019515; 31736240
DDG2P v3.11 SUPT16H Achchuthan Shanmugasundram gene: SUPT16H was added
gene: SUPT16H was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUPT16H were set to 31924697
Phenotypes for gene: SUPT16H were set to SUPT16H-related neurodevelopmental disorder
Mode of pathogenicity for gene: SUPT16H was set to Other
DDG2P v3.11 SUOX Achchuthan Shanmugasundram gene: SUOX was added
gene: SUOX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 34117075; 33405344; 34025712; 12112661; 15952210
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, OMIM:272300
DDG2P v3.11 SUMF1 Achchuthan Shanmugasundram Publications for gene: SUMF1 were updated from 12757706; 12757705; 21224894 to 21224894; 12757705; 12757706
DDG2P v3.11 SUFU Achchuthan Shanmugasundram Source Expert Review Green was added to SUFU.
Mode of inheritance for gene SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SUFU were updated from 28965847 to 33024317; 28965847; 34675124
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 STXBP1 Achchuthan Shanmugasundram Publications for gene: STXBP1 were updated from 18469812; 19557857 to 18469812; 29929108; 27069701; 25714420; 30654231; 21770924; 31387522; 24315539; 29544889; 29264391; 26212315; 32105008; 26384463; 19557857; 24170257; 29718889; 24095819; 27184330; 28944233; 29896790; 20876469; 26865513; 24623842; 31344879; 21204804; 20887364; 22596016; 25418441; 23533165; 24189369; 26514728; 23763664; 21762454; 23409955; 21364700; 21062273; 23531706; 25631041
DDG2P v3.11 STX1B Achchuthan Shanmugasundram Source Expert Review Green was added to STX1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 STT3A Achchuthan Shanmugasundram Source Expert Review Green was added to STT3A.
Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene STT3A was changed from Other - please provide details in the comments to Other
Publications for gene: STT3A were updated from 23842455 to 23842455; 34653363
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 STS Achchuthan Shanmugasundram Publications for gene: STS were updated from 3032454; 9252398; 1539590 to 1539590; 9252398; 3032454
DDG2P v3.11 STRADA Achchuthan Shanmugasundram gene: STRADA was added
gene: STRADA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRADA were set to 27170158; 33247513; 17522105; 30311510
Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
DDG2P v3.11 STRA6 Achchuthan Shanmugasundram Publications for gene: STRA6 were updated from 17503335; 17273977; 21901792; 11857549; 19839040 to 19839040; 11857549; 17273977; 21901792; 17503335
DDG2P v3.11 STN1 Achchuthan Shanmugasundram Source Expert Review Green was added to STN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 STIM1 Achchuthan Shanmugasundram Mode of pathogenicity for gene STIM1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 STIL Achchuthan Shanmugasundram Source Expert Review Green was added to STIL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 STAT5B Achchuthan Shanmugasundram Source Expert Review Green was added to STAT5B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 STAR Achchuthan Shanmugasundram Publications for gene: STAR were updated from 15546900; 8634702; 16968793; 14764819; 10566637; 9141542; 7892608; 8948562; 10323391 to 8634702; 8948562; 16968793; 9141542; 7892608; 15546900; 14764819; 10566637; 10323391
DDG2P v3.11 STAC3 Achchuthan Shanmugasundram gene: STAC3 was added
gene: STAC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STAC3 were set to 28777491; 33820833; 30168660; 33060286; 28411587
Phenotypes for gene: STAC3 were set to STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995
DDG2P v3.11 ST3GAL5 Achchuthan Shanmugasundram Source Expert Review Green was added to ST3GAL5.
Publications for gene: ST3GAL5 were updated from to 30691927; 24026681; 27232954; 15502825; 30185102
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ST3GAL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ST3GAL3.
Mode of pathogenicity for gene ST3GAL3 was changed from Other - please provide details in the comments to Other
Publications for gene: ST3GAL3 were updated from 27604308; 21907012; 23252400; 31584066; 17120046; 25529582 to 31584066; 27604308; 21907012; 23252400; 17120046; 25529582
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ST14 Achchuthan Shanmugasundram Source Expert Review Green was added to ST14.
Mode of pathogenicity for gene ST14 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SRY Achchuthan Shanmugasundram Publications for gene: SRY were updated from 1619028; 12107262; 9443877; 2247149; 1339396; 1639410; 2247151; 1956279; 10852465; 1570829; 8105086; 7987333; 7985018; 9150734; 9521592; 1483689 to 8105086; 2247151; 1639410; 10852465; 1956279; 1339396; 7987333; 1619028; 2247149; 9443877; 1483689; 9521592; 7985018; 1570829; 9150734; 12107262
DDG2P v3.11 SRSF1 Achchuthan Shanmugasundram gene: SRSF1 was added
gene: SRSF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SRSF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SRSF1 were set to SRSF1-related developmental disorder (monoallelic)
DDG2P v3.11 SRRM2 Achchuthan Shanmugasundram gene: SRRM2 was added
gene: SRRM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SRRM2 were set to 33057194; 35567594
Phenotypes for gene: SRRM2 were set to SRRM2-related developmental disorder (monoallelic)
DDG2P v3.11 SRPX2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SRPX2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SRP54 Achchuthan Shanmugasundram Source Expert Review Green was added to SRP54.
Mode of pathogenicity for gene SRP54 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SRD5A3 Achchuthan Shanmugasundram Publications for gene: SRD5A3 were updated from 20637498; 18271001 to 18271001; 30019980; 20637498
DDG2P v3.11 SRCAP Achchuthan Shanmugasundram Publications for gene: SRCAP were updated from 20358590; 22265015 to 33909990; 20358590; 30425916; 23621943; 22265015; 30304910; 24375913; 23763483; 22965468; 23165645; 25433523; 26788936
DDG2P v3.11 SPTLC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SPTLC2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SPTBN4 Achchuthan Shanmugasundram gene: SPTBN4 was added
gene: SPTBN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN4 were set to 28540413; 29861105; 28940097; 31857255; 31230720
Phenotypes for gene: SPTBN4 were set to NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS, OMIM:617519
DDG2P v3.11 SPTBN2 Achchuthan Shanmugasundram Mode of inheritance for gene SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were updated from 25981959; 22914369; 29795474 to 29795474; 22914369; 25981959
DDG2P v3.11 SPTBN1 Achchuthan Shanmugasundram gene: SPTBN1 was added
gene: SPTBN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPTBN1 were set to 34211179; 33847457
Phenotypes for gene: SPTBN1 were set to SPTBN1-related developmental disorder (monoallelic)
DDG2P v3.11 SPTAN1 Achchuthan Shanmugasundram Source Expert Review Green was added to SPTAN1.
Publications for gene: SPTAN1 were updated from 22258530; 20493457 to 36331550; 34590414; 22258530; 20493457; 29050398
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SPRY1 Achchuthan Shanmugasundram gene: SPRY1 was added
gene: SPRY1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SPRY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRY1 were set to 36543535
Phenotypes for gene: SPRY1 were set to SPRY1-associated craniosynostosis with inner ear and renal anomalies
Mode of pathogenicity for gene: SPRY1 was set to Other
DDG2P v3.11 SPRTN Achchuthan Shanmugasundram Mode of pathogenicity for gene SPRTN was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SPRED2 Achchuthan Shanmugasundram gene: SPRED2 was added
gene: SPRED2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534
Phenotypes for gene: SPRED2 were set to SPRED2-related Noonan syndrome
DDG2P v3.11 SPRED1 Achchuthan Shanmugasundram Publications for gene: SPRED1 were updated from 19366998; 17704776; 21649642; 19443465 to 17704776; 19443465; 21649642; 19366998
DDG2P v3.11 SPOP Achchuthan Shanmugasundram gene: SPOP was added
gene: SPOP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPOP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPOP were set to 32109420
Phenotypes for gene: SPOP were set to SPOP-related Neurodevelopmental Disorder, gain of function; SPOP-related Neurodevelopmental Disorder, dominant negative
Mode of pathogenicity for gene: SPOP was set to Other
DDG2P v3.11 SPG11 Achchuthan Shanmugasundram Publications for gene: SPG11 were updated from 17717710; 19194956; 17322883; 18067136 to 19194956; 17322883; 18067136; 17717710
DDG2P v3.11 SPEN Achchuthan Shanmugasundram gene: SPEN was added
gene: SPEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPEN were set to 33596411; 33057194
Phenotypes for gene: SPEN were set to SPEN-related developmental disorder (monoallelic)
DDG2P v3.11 SPECC1L Achchuthan Shanmugasundram Source Expert Review Green was added to SPECC1L.
Mode of pathogenicity for gene SPECC1L was changed from Other - please provide details in the comments to Other
Publications for gene: SPECC1L were updated from 2541274; 21703590 to 21703590; 2541274
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SPATA5L1 Achchuthan Shanmugasundram gene: SPATA5L1 was added
gene: SPATA5L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPATA5L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5L1 were set to 34626583
Phenotypes for gene: SPATA5L1 were set to SPATA5L1-associated sensorineural hearing loss and intellectual disability
DDG2P v3.11 SPAST Achchuthan Shanmugasundram gene: SPAST was added
gene: SPAST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SPAST were set to SPAST-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: SPAST was set to Other
DDG2P v3.11 SPARC Achchuthan Shanmugasundram Source Expert Review Green was added to SPARC.
Mode of pathogenicity for gene SPARC was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SOX9 Achchuthan Shanmugasundram Publications for gene: SOX9 were updated from 11754051; 7990924; 12783851; 7485151; 11076045; 19449405; 11323423; 10951468; 8001137; 8894698 to 11323423; 11754051; 10951468; 12783851; 8894698; 7990924; 7485151; 8001137; 19449405; 11076045
DDG2P v3.11 SOX6 Achchuthan Shanmugasundram gene: SOX6 was added
gene: SOX6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX6 were set to 32442410
Phenotypes for gene: SOX6 were set to SOX6-related neurodevelopmental syndrome
DDG2P v3.11 SOX5 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX5.
Publications for gene: SOX5 were updated from 22290657 to 36861937; 22290657
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SOX4 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX4.
Mode of pathogenicity for gene SOX4 was changed from Other - please provide details in the comments to Other
Publications for gene: SOX4 were updated from 30661772 to 35232796; 30661772
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SOX2 Achchuthan Shanmugasundram Publications for gene: SOX2 were updated from 12612584; 21326281; 15346919; 21919124; 16145681; 15389708; 18831064; 19254784; 15812812; 16470798; 12002146; 16543359; 16932809; 16283891 to 15389708; 16145681; 21326281; 18831064; 16283891; 12002146; 12612584; 15346919; 17219395; 15812812; 16932809; 16543359; 21919124; 19254784; 16470798
DDG2P v3.11 SOX17 Achchuthan Shanmugasundram Mode of pathogenicity for gene SOX17 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SOX11 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX11.
Publications for gene: SOX11 were updated from 24886874; 26543203 to 35341651; 26543203; 24886874
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SOX10 Achchuthan Shanmugasundram Publications for gene: SOX10 were updated from 18348274; 9462749; 10077527; 17999358 to 18627047; 8911608; 21965087; 20478267; 11026454; 10482261; 18348274; 23643381; 12447940; 9462749; 18348267; 19764030; 17999358; 10077527; 19208381; 10762540
DDG2P v3.11 SOS2 Achchuthan Shanmugasundram gene: SOS2 was added
gene: SOS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS2 were set to 26173643; 25795793; 32788663
Phenotypes for gene: SOS2 were set to SOS-2 associated Noonan syndrome, OMIM:616559
Mode of pathogenicity for gene: SOS2 was set to Other
DDG2P v3.11 SOS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SOS1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SON Achchuthan Shanmugasundram Publications for gene: SON were updated from 27545680; 27545676 to 27545676; 27545680
DDG2P v3.11 SNRPE Achchuthan Shanmugasundram Source Expert Review Green was added to SNRPE.
Mode of pathogenicity for gene SNRPE was changed from Other - please provide details in the comments to Other
Publications for gene: SNRPE were updated from 23246290; 9621144 to 36814386; 23246290; 9621144
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SNIP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SNIP1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SNAP29 Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP29.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SNAP25 Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP25.
Publications for gene: SNAP25 were updated from 29100083 to 33299146; 29100083
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMS Achchuthan Shanmugasundram Source Expert Review Green was added to SMS.
Publications for gene: SMS were updated from 19206178; 18550699; 5823961 to 19206178; 5823961; 18550699
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMPD4 Achchuthan Shanmugasundram Source Expert Review Green was added to SMPD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMPD1 Achchuthan Shanmugasundram Publications for gene: SMPD1 were updated from 12607113; 1301192; 9266408; 1885770; 12369017 to 19405096; 2023926; 8401540; 12607113; 9266408; 12369017; 1301192; 1718266; 1885770; 8051942; 1391960
DDG2P v3.11 SMOC2 Achchuthan Shanmugasundram Source Expert Review Green was added to SMOC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMO Achchuthan Shanmugasundram Mode of inheritance for gene SMO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SMO were updated from to 32413283
DDG2P v3.11 SMG9 Achchuthan Shanmugasundram Source Expert Review Green was added to SMG9.
Publications for gene: SMG9 were updated from 27018474 to 27018474; 35087184
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMG8 Achchuthan Shanmugasundram gene: SMG8 was added
gene: SMG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMG8 were set to 33242396
Phenotypes for gene: SMG8 were set to SMG8-related Developmental Disorder
DDG2P v3.11 SMCHD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SMCHD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SMC5 Achchuthan Shanmugasundram gene: SMC5 was added
gene: SMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to SMC5-related developmental disorder
Mode of pathogenicity for gene: SMC5 was set to Other
DDG2P v3.11 SMC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene SMC3 was changed from Other - please provide details in the comments to Other
Publications for gene: SMC3 were updated from 25125236; 25655089 to 17273969; 25125236; 25655089; 20358602
DDG2P v3.11 SMC1A Achchuthan Shanmugasundram Publications for gene: SMC1A were updated from 20635401; 17273969; 22106055; 16604071 to 17273969; 28548707; 24124034; 28102598; 31185419; 22106055; 26358754; 20635401; 28677859; 26354354; 16604071; 31098032; 28166369; 26386245; 26752331
DDG2P v3.11 SMARCE1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCE1.
Mode of pathogenicity for gene SMARCE1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCD1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1.
Mode of pathogenicity for gene SMARCD1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCC2 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SMARCB1 Achchuthan Shanmugasundram Publications for gene: SMARCB1 were updated from 25249037; 23929686; 22726846; 23906836; 23815551; 29907796; 22426308 to 9671307; 22726846; 25249037; 23906836; 22426308; 10739763; 10521299; 23929686; 23815551; 29907796
DDG2P v3.11 SMARCA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SMARCA2 was changed from Other - please provide details in the comments to Other
Publications for gene: SMARCA2 were updated from 19606471; 22426308; 22366787 to 32694869; 19606471; 22366787; 22426308
DDG2P v3.11 SMAD3 Achchuthan Shanmugasundram Publications for gene: SMAD3 were updated from to 21217753; 29392890
DDG2P v3.11 SMAD2 Achchuthan Shanmugasundram Publications for gene: SMAD2 were updated from 23665959 to 30157302; 23665959
DDG2P v3.11 SLX4 Achchuthan Shanmugasundram Publications for gene: SLX4 were updated from 21240277; 21240275 to 21240275; 21240277
DDG2P v3.11 SLIRP Achchuthan Shanmugasundram gene: SLIRP was added
gene: SLIRP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIRP were set to 34426662
Phenotypes for gene: SLIRP were set to SLIRP-related mitochondrial encephalomyopathy
DDG2P v3.11 SLF2 Achchuthan Shanmugasundram gene: SLF2 was added
gene: SLF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to SLF2-related developmental disorder
Mode of pathogenicity for gene: SLF2 was set to Other
DDG2P v3.11 SLC9A7 Achchuthan Shanmugasundram gene: SLC9A7 was added
gene: SLC9A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC9A7 were set to 30335141
Phenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108, OMIM:301024
Mode of pathogenicity for gene: SLC9A7 was set to Other
DDG2P v3.11 SLC6A9 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC6A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC6A8 Achchuthan Shanmugasundram Publications for gene: SLC6A8 were updated from 11326334; 16086185; 15154114; 12210795; 16738945; 11898126; 17101918 to 16086185; 11326334; 16738945; 12210795; 17101918; 11898126; 15154114
DDG2P v3.11 SLC6A17 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC6A17.
Mode of pathogenicity for gene SLC6A17 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC6A1 Achchuthan Shanmugasundram Publications for gene: SLC6A1 were updated from 25865495 to 31176687; 34006619; 25865495; 29961511; 29315614; 27600546; 30132828; 31516630
DDG2P v3.11 SLC5A7 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC5A7.
Mode of pathogenicity for gene SLC5A7 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC5A6 Achchuthan Shanmugasundram gene: SLC5A6 was added
gene: SLC5A6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 27904971; 31754459; 35013551
Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder
DDG2P v3.11 SLC5A5 Achchuthan Shanmugasundram Publications for gene: SLC5A5 were updated from 9388506; 9745458; 3998954; 9486973; 3451231; 9171822 to 9486973; 9388506; 9171822; 3998954; 3451231; 9745458
DDG2P v3.11 SLC52A3 Achchuthan Shanmugasundram Publications for gene: SLC52A3 were updated from 20206331; 20920669; 16122634; 21110228 to 21110228; 16122634; 20920669; 20206331
DDG2P v3.11 SLC4A4 Achchuthan Shanmugasundram Publications for gene: SLC4A4 were updated from 10545938; 11274232 to 10545938; 11274232
DDG2P v3.11 SLC4A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC4A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SLC46A1 Achchuthan Shanmugasundram Publications for gene: SLC46A1 were updated from 17446347; 20795774; 18559978; 11807405; 21333572; 11804211 to 11804211; 17446347; 21333572; 20795774; 18559978; 11807405
DDG2P v3.11 SLC45A1 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC45A1.
Mode of pathogenicity for gene SLC45A1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC39A8 Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC39A8 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SLC38A3 Achchuthan Shanmugasundram gene: SLC38A3 was added
gene: SLC38A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC38A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC38A3 were set to 34605855; 36539921
Phenotypes for gene: SLC38A3 were set to SLC38A3-associated epileptic encephalopathy.
DDG2P v3.11 SLC37A4 Achchuthan Shanmugasundram gene: SLC37A4 was added
gene: SLC37A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC37A4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC37A4 were set to 9758626; 21629566; 28224773; 9428641; 24385852; 31617422; 31508908; 33728255; 32005221; 19579760; 25804016; 33964207
Phenotypes for gene: SLC37A4 were set to SLC37A4-related congenital disorder of glycosylation with liver dysfunction; Glycogen storage disease Ib, OMIM:232220
DDG2P v3.11 SLC35D1 Achchuthan Shanmugasundram Publications for gene: SLC35D1 were updated from 11200994; 19508970; 17952091 to 35934917; 11200994; 19508970; 17952091
DDG2P v3.11 SLC35B2 Achchuthan Shanmugasundram gene: SLC35B2 was added
gene: SLC35B2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35B2 were set to 35325049
Phenotypes for gene: SLC35B2 were set to SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy
Mode of pathogenicity for gene: SLC35B2 was set to Other
DDG2P v3.11 SLC35A1 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC35A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC32A1 Achchuthan Shanmugasundram gene: SLC32A1 was added
gene: SLC32A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC32A1 were set to 34038384; 36073542
Phenotypes for gene: SLC32A1 were set to SLC32A1-associated developmental and epileptic encephalopathy
Mode of pathogenicity for gene: SLC32A1 was set to Other
DDG2P v3.11 SLC31A1 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC31A1.
Mode of pathogenicity for gene SLC31A1 was changed from Other - please provide details in the comments to Other
Publications for gene: SLC31A1 were updated from 21937992 to 21937992; 35913762; 36562171
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 SLC30A7 Achchuthan Shanmugasundram gene: SLC30A7 was added
gene: SLC30A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC30A7 were set to 35751429
Phenotypes for gene: SLC30A7 were set to SLC30A7-associated Joubert syndrome
Mode of pathogenicity for gene: SLC30A7 was set to Other
DDG2P v3.11 SLC2A2 Achchuthan Shanmugasundram Publications for gene: SLC2A2 were updated from 9354798 to 9354798; 11044475
DDG2P v3.11 SLC2A10 Achchuthan Shanmugasundram Publications for gene: SLC2A10 were updated from 16550171; 17935213; 14569121 to 14569121; 17935213; 16550171
DDG2P v3.11 SLC2A1 Achchuthan Shanmugasundram Publications for gene: SLC2A1 were updated from 14605501; 19901175; 18451999; 18403583; 19630075; 18577546 to 10980529; 1714544; 19630075; 14605501; 11136715; 19901175; 11603379; 9462754; 18403583; 18606970; 18577546; 18451999; 20221955
DDG2P v3.11 SLC26A2 Achchuthan Shanmugasundram Publications for gene: SLC26A2 were updated from 7923357; 10482955; 10466420; 8571951; 18925670 to 18925670; 10482955; 8571951; 7923357; 4644462; 12966518; 10466420; 8528239
DDG2P v3.11 SLC25A42 Achchuthan Shanmugasundram gene: SLC25A42 was added
gene: SLC25A42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Phenotypes for gene: SLC25A42 were set to SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
DDG2P v3.11 SLC25A4 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A4.
Mode of pathogenicity for gene SLC25A4 was changed from Other - please provide details in the comments to Other
Publications for gene: SLC25A4 were updated from 30046662; 27693233; 30329211 to 27693233; 30046662; 30329211
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC25A24 Achchuthan Shanmugasundram Mode of pathogenicity for gene SLC25A24 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SLC25A22 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A22.
Mode of pathogenicity for gene SLC25A22 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC25A20 Achchuthan Shanmugasundram Publications for gene: SLC25A20 were updated from 9399886; 12859414; 10384384; 10697964; 9686371 to 9399886; 10697964; 9686371; 12859414; 10384384
DDG2P v3.11 SLC25A19 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A19.
Mode of pathogenicity for gene SLC25A19 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC25A15 Achchuthan Shanmugasundram Publications for gene: SLC25A15 were updated from 10369256; 16940241; 11355015; 19242930; 11552031 to 11355015; 19242930; 10369256; 16940241; 11552031
DDG2P v3.11 SLC25A1 Achchuthan Shanmugasundram gene: SLC25A1 was added
gene: SLC25A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A1 were set to 29226520; 27306203; 23561848
Phenotypes for gene: SLC25A1 were set to SLC25A1-related Neurometabolic Disorder
DDG2P v3.11 SLC24A4 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC24A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC22A5 Achchuthan Shanmugasundram Publications for gene: SLC22A5 were updated from 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805; 10545605; 11261427 to 9916797; 2235122; 10480371; 10545605; 15714519; 9634512; 3974805; 10425211; 10051646; 20027113; 9700603; 11058897; 11261427
DDG2P v3.11 SLC1A4 Achchuthan Shanmugasundram gene: SLC1A4 was added
gene: SLC1A4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 27193218; 26041762; 31763347; 34174466
Phenotypes for gene: SLC1A4 were set to SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
DDG2P v3.11 SLC1A2 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC1A2.
Mode of pathogenicity for gene SLC1A2 was changed from Other - please provide details in the comments to Other
Publications for gene: SLC1A2 were updated from 28777935; 27476654 to 27476654; 28777935
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SLC19A3 Achchuthan Shanmugasundram Publications for gene: SLC19A3 were updated from 19387023; 15871139; 20065143 to 15871139; 19387023; 20065143
DDG2P v3.11 SLC17A5 Achchuthan Shanmugasundram Publications for gene: SLC17A5 were updated from 10069709; 10581036 to 10069709; 10947946; 10581036
DDG2P v3.11 SLC16A2 Achchuthan Shanmugasundram Publications for gene: SLC16A2 were updated from 15488219; 1605231; 8484404; 14661163; 15889350 to 8484404; 15488219; 1605231; 14661163; 15889350
DDG2P v3.11 SLC13A1 Achchuthan Shanmugasundram gene: SLC13A1 was added
gene: SLC13A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SLC13A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC13A1 were set to 36175384
Phenotypes for gene: SLC13A1 were set to SLC13A1-associated hypersulfaturia and hyposulfatemia
DDG2P v3.11 SLC12A6 Achchuthan Shanmugasundram Publications for gene: SLC12A6 were updated from 12368912; 31439721; 27485015; 16606917; 17893295; 21628467 to 21628467; 12368912; 27485015; 16606917; 17893295; 31439721
DDG2P v3.11 SLC12A5 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC12A5.
Mode of inheritance for gene SLC12A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene SLC12A5 was changed from Other - please provide details in the comments to Other
Publications for gene: SLC12A5 were updated from 24668262 to 24668262; 28477354; 26333769; 27436767
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 SKI Achchuthan Shanmugasundram Mode of pathogenicity for gene SKI was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SIX6 Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX6 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SIX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene SIX5 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SIX3 Achchuthan Shanmugasundram Publications for gene: SIX3 were updated from 19346217; 10369266; 17001667; 19353631; 11039582 to 19353631; 10369266; 19346217; 11039582; 17001667
DDG2P v3.11 SIX1 Achchuthan Shanmugasundram Publications for gene: SIX1 were updated from 10777717 to 15141091; 12843324; 10777717; 17637804
DDG2P v3.11 SIN3B Achchuthan Shanmugasundram gene: SIN3B was added
gene: SIN3B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SIN3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIN3B were set to 33811806
Phenotypes for gene: SIN3B were set to SIN3B-related syndromic intellectual disability and autism spectrum disorder
DDG2P v3.11 SIN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SIN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SIM1 Achchuthan Shanmugasundram Publications for gene: SIM1 were updated from 28472148; 23778136; 23778139 to 28472148; 23778139; 23778136
DDG2P v3.11 SIL1 Achchuthan Shanmugasundram Publications for gene: SIL1 were updated from 16282978; 18285827; 17026626; 20111056; 16282977 to 17026626; 18285827; 20111056; 16282978; 16282977
DDG2P v3.11 SIK1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SIK1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SIAH1 Achchuthan Shanmugasundram gene: SIAH1 was added
gene: SIAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to SIAH1-associated neurodevelopmental disorder
Mode of pathogenicity for gene: SIAH1 was set to Other
DDG2P v3.11 SHROOM3 Achchuthan Shanmugasundram Source Expert Review Green was added to SHROOM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SHOX Achchuthan Shanmugasundram Publications for gene: SHOX were updated from 9590293; 15356038; 11403039; 11030412; 21712857 to 9590292; 11403039; 12116254; 17935511; 9590293; 11889214; 15356038; 21712857; 11030412
DDG2P v3.11 SHOC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SHOC2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SHMT2 Achchuthan Shanmugasundram gene: SHMT2 was added
gene: SHMT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to SHMT2-related neurodevelopmental syndrome
Mode of pathogenicity for gene: SHMT2 was set to Other
DDG2P v3.11 SHH Achchuthan Shanmugasundram Publications for gene: SHH were updated from 11471164; 15103725; 12567406 to 12503095; 11471164; 15103725; 12567406
DDG2P v3.11 SHANK3 Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK3.
Publications for gene: SHANK3 were updated from 22892527; 17173049 to 17173049; 22892527
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SHANK2 Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SHANK1 Achchuthan Shanmugasundram Source Expert Review Green was added to SHANK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SH3PXD2B Achchuthan Shanmugasundram Publications for gene: SH3PXD2B were updated from 20137777; 15523657; 7158646 to 20137777; 7158646; 15523657
DDG2P v3.11 SH3BP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene SH3BP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SETD5 Achchuthan Shanmugasundram Publications for gene: SETD5 were updated from 24680889 to 31656537; 27375234; 28881385; 24680889; 28905509; 25138099; 28549204
DDG2P v3.11 SETD2 Achchuthan Shanmugasundram Source Expert Review Green was added to SETD2.
Publications for gene: SETD2 were updated from 24852293; 27317772 to 34978780; 27317772; 32710489; 24852293
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SETD1B Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1B.
Publications for gene: SETD1B were updated from 29322246 to 32546566; 29322246
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 SETD1A Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SET Achchuthan Shanmugasundram Source Expert Review Green was added to SET.
Publications for gene: SET were updated from 28135719 to 35122673; 29688601; 28135719; 29907757
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SERAC1 Achchuthan Shanmugasundram gene: SERAC1 was added
gene: SERAC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 32346411; 27186703; 28505671; 27331002; 28778788; 28916646; 34326751; 23707711; 29205472; 31251474; 33613893
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739
DDG2P v3.11 SEPSECS Achchuthan Shanmugasundram Publications for gene: SEPSECS were updated from 29464431; 26805434; 26888482 to 26805434; 29464431; 26888482
DDG2P v3.11 SEMA6B Achchuthan Shanmugasundram gene: SEMA6B was added
gene: SEMA6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SEMA6B were set to 34110594; 34017830; 33798445; 32169168; 34218423; 35604360; 34092044
Phenotypes for gene: SEMA6B were set to SEMA6B-related neurodevelopmental disorder
Mode of pathogenicity for gene: SEMA6B was set to Other
DDG2P v3.11 SEMA3A Achchuthan Shanmugasundram gene: SEMA3A was added
gene: SEMA3A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 24124006; 33369061; 28075028
Phenotypes for gene: SEMA3A were set to SEMA3A-related skeletal dysplasia
DDG2P v3.11 SELENON Achchuthan Shanmugasundram gene: SELENON was added
gene: SELENON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENON were set to 26841830; 15792869; 12192640; 28558865; 30642275; 23394784; 20937510; 32154989; 26780752; 29850975; 11528383; 15668457; 16498447; 28688748; 29172004; 31066047; 21670436; 28606403; 15961312; 25808192; 17951086
Phenotypes for gene: SELENON were set to SELENON-related myopathy
DDG2P v3.11 SELENOI Achchuthan Shanmugasundram Source Expert Review Green was added to SELENOI.
Mode of inheritance for gene SELENOI was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were updated from 28052917; 29500230 to 29500230; 28052917
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SECISBP2 Achchuthan Shanmugasundram Source Expert Review Green was added to SECISBP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SEC61A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC61A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SEC24D Achchuthan Shanmugasundram Source Expert Review Green was added to SEC24D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SEC23B Achchuthan Shanmugasundram Publications for gene: SEC23B were updated from 19561605; 19621418 to 19621418; 19561605
DDG2P v3.11 SEC23A Achchuthan Shanmugasundram Mode of pathogenicity for gene SEC23A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SDHAF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHAF1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SDHA Achchuthan Shanmugasundram Mode of pathogenicity for gene SDHA was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SDCCAG8 Achchuthan Shanmugasundram Publications for gene: SDCCAG8 were updated from 20835237 to 20835237; 22626039
DDG2P v3.11 SCYL1 Achchuthan Shanmugasundram Source Expert Review Green was added to SCYL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SCUBE3 Achchuthan Shanmugasundram gene: SCUBE3 was added
gene: SCUBE3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCUBE3 were set to 33308444
Phenotypes for gene: SCUBE3 were set to SCUBE3-related developmental disorder
DDG2P v3.11 SCO2 Achchuthan Shanmugasundram Publications for gene: SCO2 were updated from 10545952; 10749987; 18924171; 14994243 to 10749987; 14994243; 10545952; 18924171
DDG2P v3.11 SCNM1 Achchuthan Shanmugasundram gene: SCNM1 was added
gene: SCNM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNM1 were set to 36084634
Phenotypes for gene: SCNM1 were set to SCNM1-associated orofaciodigital syndrome
DDG2P v3.11 SCN8A Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN8A was changed from to Other
Publications for gene: SCN8A were updated from 22365152 to 22365152; 16236810
DDG2P v3.11 SCN4A Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN4A was changed from Other - please provide details in the comments to Other
Publications for gene: SCN4A were updated from 8388676; 17998485; 10369308; 8580427; 1316765; 18203179; 19015492; 1338909; 1310898; 19015483 to 1310898; 1316765; 10599760; 10851391; 16890191; 1338909; 8388676; 17998485; 1659668; 19015492; 8580427; 11591859; 10369308; 15596759; 18203179; 1659948; 19015483; 10944223
DDG2P v3.11 SCN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A.
Mode of pathogenicity for gene SCN3A was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 SCN2A Achchuthan Shanmugasundram Publications for gene: SCN2A were updated from 26291284; 23935176 to 25457084; 26291284; 31966371; 24579881; 31439038; 31204721; 28489313; 28379373; 19783390; 30062040; 16417554; 24814476; 28254201; 15028761; 26311622; 17386050; 23550958; 22591750; 19786696; 23988467; 24710820; 24659627; 30144217; 30203812; 25459969; 29635106; 23935176; 28709814; 23827426; 27781028; 25772804; 29625812
DDG2P v3.11 SCN1B Achchuthan Shanmugasundram Publications for gene: SCN1B were updated from 18464934 to 17020904; 9697698; 12011299; 18464934
DDG2P v3.11 SCN1A Achchuthan Shanmugasundram Publications for gene: SCN1A were updated from 11359211; 21753172; 16505326; 18680191; 17000989; 12566275; 21555645 to 16505326; 18680191; 12566275; 11359211; 21555645; 21753172; 17000989
DDG2P v3.11 SCN11A Achchuthan Shanmugasundram Mode of pathogenicity for gene SCN11A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SCAF4 Achchuthan Shanmugasundram gene: SCAF4 was added
gene: SCAF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to SCAF4-related Neurodevelopmental Disorder
DDG2P v3.11 SC5D Achchuthan Shanmugasundram Mode of pathogenicity for gene SC5D was changed from Other - please provide details in the comments to Other
Publications for gene: SC5D were updated from to 12189593; 12812989
DDG2P v3.11 SATB2 Achchuthan Shanmugasundram Publications for gene: SATB2 were updated from 28139846; 28151491 to 30848049; 31392730; 31021519; 30575289; 17377962; 31333717; 28151491; 29739092; 35838081; 29436146; 28211976; 28139846; 26596517; 28787087; 31420882; 24363063; 30648748; 25885067; 24301056; 27774744
DDG2P v3.11 SATB1 Achchuthan Shanmugasundram gene: SATB1 was added
gene: SATB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SATB1 were set to 33057194
Phenotypes for gene: SATB1 were set to SATB1-related developmental disorder (monoallelic)
DDG2P v3.11 SARS2 Achchuthan Shanmugasundram gene: SARS2 was added
gene: SARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS2 were set to 21255763; 33751860; 24034276
Phenotypes for gene: SARS2 were set to SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845
Mode of pathogenicity for gene: SARS2 was set to Other
DDG2P v3.11 SARS Achchuthan Shanmugasundram gene: SARS was added
gene: SARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARS were set to 28236339; 34570399; 36041817
Phenotypes for gene: SARS were set to SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709; Autosomal dominant SARS1-related neurodevelopmental disorder
Mode of pathogenicity for gene: SARS was set to Other
DDG2P v3.11 SAMD9L Achchuthan Shanmugasundram Mode of pathogenicity for gene SAMD9L was changed from Other - please provide details in the comments to Other
DDG2P v3.11 SAMD9 Achchuthan Shanmugasundram Mode of pathogenicity for gene SAMD9 was changed from to Other
DDG2P v3.11 SALL4 Achchuthan Shanmugasundram Publications for gene: SALL4 were updated from to 17256792; 12395297; 26791099; 12393809
DDG2P v3.11 SALL1 Achchuthan Shanmugasundram Publications for gene: SALL1 were updated from 18000979; 11484202; 9973281; 10928856; 17431915; 14755477; 9425907; 10533063 to 18000979; 10533063; 9973281; 14755477; 17431915; 11484202; 10928856; 9425907
DDG2P v3.11 SACS Achchuthan Shanmugasundram Source Expert Review Green was added to SACS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RYR2 Achchuthan Shanmugasundram gene: RYR2 was added
gene: RYR2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RYR2 were set to 30170228
Phenotypes for gene: RYR2 were set to RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability
Mode of pathogenicity for gene: RYR2 was set to Other
DDG2P v3.11 RUNX2 Achchuthan Shanmugasundram Publications for gene: RUNX2 were updated from 12081718; 9182765; 9207800; 12424590; 10521292; 15952089; 10545612 to 9207800; 12081718; 12424590; 9182765; 10545612; 15952089; 10521292
DDG2P v3.11 RUBCN Achchuthan Shanmugasundram Mode of pathogenicity for gene RUBCN was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RTTN Achchuthan Shanmugasundram Mode of pathogenicity for gene RTTN was changed from Other - please provide details in the comments to Other
Publications for gene: RTTN were updated from 22939636; 29883675; 26608784 to 26608784; 22939636; 29883675
DDG2P v3.11 RSRC1 Achchuthan Shanmugasundram gene: RSRC1 was added
gene: RSRC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RSRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSRC1 were set to 29522154; 32227164; 28640246
Phenotypes for gene: RSRC1 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70
DDG2P v3.11 RSPRY1 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPRY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RSPO4 Achchuthan Shanmugasundram Publications for gene: RSPO4 were updated from 4702713; 17041604; 17186469; 18070203; 17914448 to 17186469; 18070203; 17041604; 17914448; 4702713
DDG2P v3.11 RSPO2 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RRM2B Achchuthan Shanmugasundram Publications for gene: RRM2B were updated from 17486094; 19616983; 23968935; 23107649; 28482374 to 23107649; 19616983; 28482374; 23968935; 17486094
DDG2P v3.11 RRM1 Achchuthan Shanmugasundram gene: RRM1 was added
gene: RRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RRM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RRM1 were set to 35617047
Phenotypes for gene: RRM1 were set to RRM1-related mitochondrial DNA depletion/deletions syndrome
Mode of pathogenicity for gene: RRM1 was set to Other
DDG2P v3.11 RRAS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene RRAS2 was changed from Other - please provide details in the comments to Other
Publications for gene: RRAS2 were updated from 31130282; 31130285; 24705357 to 31130282; 31130285; 24705357
DDG2P v3.11 RRAS Achchuthan Shanmugasundram Source Expert Review Green was added to RRAS.
Mode of pathogenicity for gene RRAS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RPS6KA3 Achchuthan Shanmugasundram Publications for gene: RPS6KA3 were updated from 10528858; 12439904; 17717706; 9887375; 12558110; 11992250; 9837815; 10094187; 15214012; 8955270; 14986828 to 17717706; 10094187; 12439904; 8955270; 9887375; 9837815; 12558110; 10528858; 15214012; 14986828; 11992250
DDG2P v3.11 RPS26 Achchuthan Shanmugasundram gene: RPS26 was added
gene: RPS26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPS26 were set to 24942156; 24675553; 25946618; 31277601; 20116044
Phenotypes for gene: RPS26 were set to DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309
DDG2P v3.11 RPS23 Achchuthan Shanmugasundram Source Expert Review Green was added to RPS23.
Mode of pathogenicity for gene RPS23 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RPL26 Achchuthan Shanmugasundram gene: RPL26 was added
gene: RPL26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL26 were set to 22431104
Phenotypes for gene: RPL26 were set to DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900
DDG2P v3.11 RPL13 Achchuthan Shanmugasundram gene: RPL13 was added
gene: RPL13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Mode of pathogenicity for gene: RPL13 was set to Other
DDG2P v3.11 RPL11 Achchuthan Shanmugasundram Publications for gene: RPL11 were updated from 19191325; 19061985; 19773262 to 19191325; 19061985; 19773262
DDG2P v3.11 RPL10 Achchuthan Shanmugasundram gene: RPL10 was added
gene: RPL10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RPL10 were set to 25846674; 29066376; 35876338; 25316788; 26290468
Phenotypes for gene: RPL10 were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998
Mode of pathogenicity for gene: RPL10 was set to Other
DDG2P v3.11 RPGRIP1L Achchuthan Shanmugasundram Publications for gene: RPGRIP1L were updated from 18565097; 17558409; 17558407 to 17558409; 17558407; 18565097; 19574260
DDG2P v3.11 RPGRIP1 Achchuthan Shanmugasundram Publications for gene: RPGRIP1 were updated from 12920076 to 12920076; 11283794; 11528500
DDG2P v3.11 RORB Achchuthan Shanmugasundram gene: RORB was added
gene: RORB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RORB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RORB were set to 27352968; 32162308; 33387058
Phenotypes for gene: RORB were set to RORB-epilepsy and neurodevelopmental disorder, OMIM:618357; epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699
DDG2P v3.11 RORA Achchuthan Shanmugasundram Source Expert Review Green was added to RORA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ROR2 Achchuthan Shanmugasundram Publications for gene: ROR2 were updated from 10986040; 19533773; 10700182; 19461659 to 35344616; 15952209; 10932186; 10932187; 10986040; 19640924; 18831060; 10700182; 19461659; 19533773
DDG2P v3.11 ROGDI Achchuthan Shanmugasundram Publications for gene: ROGDI were updated from 16411202; 8133980; 3236364; 22424600; 22482807; 7625549 to 3236364; 7625549; 16411202; 22482807; 8133980; 22424600
DDG2P v3.11 ROBO4 Achchuthan Shanmugasundram Source Expert Review Green was added to ROBO4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RNU4ATAC Achchuthan Shanmugasundram Mode of pathogenicity for gene RNU4ATAC was changed from Other - please provide details in the comments to Other
Publications for gene: RNU4ATAC were updated from 17666473; 21474761; 22581640; 21474760 to 22581640; 21474761; 21474760; 17666473
DDG2P v3.11 RNU12 Achchuthan Shanmugasundram gene: RNU12 was added
gene: RNU12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 27863452; 34085356
Phenotypes for gene: RNU12 were set to RNU12-related CDAGS syndrome
Mode of pathogenicity for gene: RNU12 was set to Other
DDG2P v3.11 RNPC3 Achchuthan Shanmugasundram gene: RNPC3 was added
gene: RNPC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNPC3 were set to 35792517; 29866761; 32462814; 24480542; 33650182
Phenotypes for gene: RNPC3 were set to RNPC3-associated growth hormone deficiency and short stature, OMIM:618160
DDG2P v3.11 RNF13 Achchuthan Shanmugasundram Source Expert Review Green was added to RNF13.
Mode of pathogenicity for gene RNF13 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RNF125 Achchuthan Shanmugasundram gene: RNF125 was added
gene: RNF125 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNF125 were set to 34196401; 25196541
Phenotypes for gene: RNF125 were set to RNF125-related intellectual disability and macrocephaly, OMIM:616260
Mode of pathogenicity for gene: RNF125 was set to Other
DDG2P v3.11 RMND1 Achchuthan Shanmugasundram Source Expert Review Green was added to RMND1.
Mode of pathogenicity for gene RMND1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RLIM Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM.
Mode of pathogenicity for gene RLIM was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RIT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene RIT1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RINT1 Achchuthan Shanmugasundram Source Expert Review Green was added to RINT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RIN2 Achchuthan Shanmugasundram Source Expert Review Green was added to RIN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RIMS2 Achchuthan Shanmugasundram gene: RIMS2 was added
gene: RIMS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIMS2 were set to 32470375
Phenotypes for gene: RIMS2 were set to RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease
DDG2P v3.11 RHOBTB2 Achchuthan Shanmugasundram Source Expert Review Green was added to RHOBTB2.
Mode of pathogenicity for gene RHOBTB2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RFX6 Achchuthan Shanmugasundram Publications for gene: RFX6 were updated from 18512226; 20148032; 19887127; 15592663 to 15592663; 19887127; 18512226; 20148032
DDG2P v3.11 RFT1 Achchuthan Shanmugasundram Source Expert Review Green was added to RFT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RET Achchuthan Shanmugasundram Mode of inheritance for gene RET was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene RET was changed from to Other
Publications for gene: RET were updated from to 11788682
DDG2P v3.11 REST Achchuthan Shanmugasundram gene: REST was added
gene: REST was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: REST were set to 36509837
Phenotypes for gene: REST were set to REST-related gingival fibromatosis and sensorineural hearing loss
Mode of pathogenicity for gene: REST was set to Other
DDG2P v3.11 RECQL4 Achchuthan Shanmugasundram Publications for gene: RECQL4 were updated from 11754069; 15964893; 9934984 to 11754069; 12952869; 12734318; 15964893; 10319867; 20503338; 12838562; 9878247; 10678659; 9934984
DDG2P v3.11 RBPJ Achchuthan Shanmugasundram Source Expert Review Green was added to RBPJ.
Mode of pathogenicity for gene RBPJ was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RBM28 Achchuthan Shanmugasundram Mode of pathogenicity for gene RBM28 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RBM10 Achchuthan Shanmugasundram Source Expert Review Green was added to RBM10.
Publications for gene: RBM10 were updated from 20451169; 5410571 to 20451169; 5410571; 30189253; 30450804; 35645043
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RBFOX1 Achchuthan Shanmugasundram gene: RBFOX1 was added
gene: RBFOX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RBFOX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RBFOX1 were set to 26185613; 26749308
Phenotypes for gene: RBFOX1 were set to RBFOX1-related neurodevelopmental disorder
DDG2P v3.11 RBBP8 Achchuthan Shanmugasundram gene: RBBP8 was added
gene: RBBP8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RBBP8 were set to 26333564; 34270086; 21998596
Phenotypes for gene: RBBP8 were set to RBBP8-related microcephaly and intellectual disability, OMIM:251255
DDG2P v3.11 RAX Achchuthan Shanmugasundram Publications for gene: RAX were updated from 14662654; 18783408 to 18783408; 14662654
DDG2P v3.11 RASA1 Achchuthan Shanmugasundram Source Expert Review Red was added to RASA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 RARS2 Achchuthan Shanmugasundram Publications for gene: RARS2 were updated from to 34085948
DDG2P v3.11 RARS Achchuthan Shanmugasundram gene: RARS was added
gene: RARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RARS were set to 28905880; 31814314
Phenotypes for gene: RARS were set to RARS1 related hypomyelinating leukodystrophy
DDG2P v3.11 RARB Achchuthan Shanmugasundram Publications for gene: RARB were updated from 24075189 to 27120018; 24075189
DDG2P v3.11 RAPSN Achchuthan Shanmugasundram Publications for gene: RAPSN were updated from 18179903 to 11791205; 18179903
DDG2P v3.11 RAP1B Achchuthan Shanmugasundram gene: RAP1B was added
gene: RAP1B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAP1B were set to 32627184; 26280580
Phenotypes for gene: RAP1B were set to RAP1B-related developmental disorder
Mode of pathogenicity for gene: RAP1B was set to Other
DDG2P v3.11 RANBP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene RANBP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RALGDS Achchuthan Shanmugasundram Mode of pathogenicity for gene RALGDS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RALGAPA1 Achchuthan Shanmugasundram gene: RALGAPA1 was added
gene: RALGAPA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RALGAPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RALGAPA1 were set to 32004447
Phenotypes for gene: RALGAPA1 were set to RALGAPA1-related neurodevelopmental disorder
DDG2P v3.11 RALA Achchuthan Shanmugasundram gene: RALA was added
gene: RALA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RALA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RALA were set to 30500825
Phenotypes for gene: RALA were set to RALA-related Neurodevelopmental Syndrome
Mode of pathogenicity for gene: RALA was set to Other
DDG2P v3.11 RAF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene RAF1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RAD51C Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51C.
Mode of pathogenicity for gene RAD51C was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RAD21 Achchuthan Shanmugasundram Publications for gene: RAD21 were updated from 22633399 to 27882533; 30716475; 22633399; 32193685; 24378232; 30125677
DDG2P v3.11 RAC3 Achchuthan Shanmugasundram Source Expert Review Green was added to RAC3.
Mode of pathogenicity for gene RAC3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RAC1 Achchuthan Shanmugasundram Source Expert Review Green was added to RAC1.
Mode of pathogenicity for gene RAC1 was changed from Other - please provide details in the comments to Other
Publications for gene: RAC1 were updated from 28886345 to 35139179; 28886345
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RABL6 Achchuthan Shanmugasundram Mode of pathogenicity for gene RABL6 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 RAB3GAP2 Achchuthan Shanmugasundram Publications for gene: RAB3GAP2 were updated from 16532399 to 16532399; 29419336
DDG2P v3.11 RAB3GAP1 Achchuthan Shanmugasundram Publications for gene: RAB3GAP1 were updated from 29675078; 15216543; 15696165; 10465117; 20512159 to 15216543; 29675078; 10465117; 20512159; 15696165
DDG2P v3.11 RAB39B Achchuthan Shanmugasundram Publications for gene: RAB39B were updated from 11050621; 20159109; 25434005 to 20159109; 25434005; 11050621
DDG2P v3.11 RAB14 Achchuthan Shanmugasundram gene: RAB14 was added
gene: RAB14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAB14 were set to 33057194
Phenotypes for gene: RAB14 were set to RAB14-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: RAB14 was set to Other
DDG2P v3.11 RAB11B Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11B.
Mode of pathogenicity for gene RAB11B was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 RAB11A Achchuthan Shanmugasundram Source Expert Review Green was added to RAB11A.
Mode of pathogenicity for gene RAB11A was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 QDPR Achchuthan Shanmugasundram Publications for gene: QDPR were updated from 9341885; 9744478; 2116088; 8326489; 11153907 to 8326489; 2116088; 11153907; 9744478; 9341885
DDG2P v3.11 QARS Achchuthan Shanmugasundram Source Expert Review Green was added to QARS.
Mode of pathogenicity for gene QARS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PYROXD1 Achchuthan Shanmugasundram Source Expert Review Green was added to PYROXD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PYCR2 Achchuthan Shanmugasundram Source Expert Review Green was added to PYCR2.
Mode of pathogenicity for gene PYCR2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PYCR1 Achchuthan Shanmugasundram Publications for gene: PYCR1 were updated from 18304158; 18348262; 16045708; 19576563; 19648921; 11424136 to 19648921; 18304158; 11424136; 19576563; 18348262; 16045708
DDG2P v3.11 PXDN Achchuthan Shanmugasundram Source Expert Review Green was added to PXDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PUS7 Achchuthan Shanmugasundram Source Expert Review Green was added to PUS7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PUS3 Achchuthan Shanmugasundram gene: PUS3 was added
gene: PUS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 30697592; 32056211; 34415064; 31444731; 30308082; 27055666
Phenotypes for gene: PUS3 were set to PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae
DDG2P v3.11 PUS1 Achchuthan Shanmugasundram gene: PUS1 was added
gene: PUS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 32287105; 30588737; 17056637; 26556812; 25227147
Phenotypes for gene: PUS1 were set to MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462
DDG2P v3.11 PURA Achchuthan Shanmugasundram Publications for gene: PURA were updated from 25342064 to 31911028; 29150892; 25342064; 29097605; 32089526; 29307761; 27148565; 25439098
DDG2P v3.11 PUF60 Achchuthan Shanmugasundram Publications for gene: PUF60 were updated from 24140112; 27804958 to 24140112; 28327570; 27804958
DDG2P v3.11 PTRH2 Achchuthan Shanmugasundram gene: PTRH2 was added
gene: PTRH2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 31057140; 27129381; 25574476; 25558065; 28328138
Phenotypes for gene: PTRH2 were set to NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263
DDG2P v3.11 PTPN14 Achchuthan Shanmugasundram Source Expert Review Green was added to PTPN14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PTPN11 Achchuthan Shanmugasundram 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
DDG2P v3.11 PTH1R Achchuthan Shanmugasundram Publications for gene: PTH1R were updated from 10523019; 17164305; 3975110; 9649554; 9745456 to 9745456; 8703170; 15240651; 17164305; 3975110; 7701349; 10487664; 15525660; 10523019; 19061984; 9649554
DDG2P v3.11 PTH Achchuthan Shanmugasundram Source Expert Review Green was added to PTH.
Publications for gene: PTH were updated from 2212001; 1302009; 10523031; 3005800 to 3005800; 1302009; 10523031; 2212001
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PTF1A Achchuthan Shanmugasundram Publications for gene: PTF1A were updated from 24212882 to 15543146; 21749365; 10507728; 24212882
DDG2P v3.11 PTEN Achchuthan Shanmugasundram Publications for gene: PTEN were updated from 23160955; 15805158; 17286265 to 9241266; 9467011; 9259288; 17286265; 11476841; 9425889; 9140396; 9832031; 10051160; 16704655; 12844284; 15805158; 12471211; 10353779; 10777358; 23160955; 11238682; 9832032
DDG2P v3.11 PTDSS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PTDSS1 was changed from Other - please provide details in the comments to Other
Publications for gene: PTDSS1 were updated from 24241535 to 35224839; 24241535
DDG2P v3.11 PTCH1 Achchuthan Shanmugasundram Publications for gene: PTCH1 were updated from 12900905; 8681379; 22572734; 8658145 to 8658145; 11941477; 8681379; 17001668; 22572734; 12900905
DDG2P v3.11 PSPH Achchuthan Shanmugasundram Publications for gene: PSPH were updated from 25152457 to 25152457; 14673469; 9222972
DDG2P v3.11 PSMC5 Achchuthan Shanmugasundram gene: PSMC5 was added
gene: PSMC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSMC5 were set to 33057194
Phenotypes for gene: PSMC5 were set to PSMC5-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: PSMC5 was set to Other
DDG2P v3.11 PSMC1 Achchuthan Shanmugasundram gene: PSMC1 was added
gene: PSMC1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PSMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PSMC1 were set to 35861243
Phenotypes for gene: PSMC1 were set to PSMC1-related neurodevelopmental disorder
Mode of pathogenicity for gene: PSMC1 was set to Other
DDG2P v3.11 PSMB8 Achchuthan Shanmugasundram Mode of pathogenicity for gene PSMB8 was changed from Other - please provide details in the comments to Other
Publications for gene: PSMB8 were updated from 21852578; 21881205; 21129723; 21953331 to 21881205; 21953331; 21852578; 21129723
DDG2P v3.11 PSAT1 Achchuthan Shanmugasundram Source Expert Review Green was added to PSAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PRUNE1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRUNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PRSS56 Achchuthan Shanmugasundram Publications for gene: PRSS56 were updated from 19526372; 21397065 to 21397065; 19526372
DDG2P v3.11 PRRX1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PRRX1 was changed from Other - please provide details in the comments to Other
Publications for gene: PRRX1 were updated from 22211708; 23444262 to 23444262; 22211708
DDG2P v3.11 PRRT2 Achchuthan Shanmugasundram Publications for gene: PRRT2 were updated from 22543779; 22243967; 22744660 to 22543779; 21937992; 22243967; 22744660
DDG2P v3.11 PRR12 Achchuthan Shanmugasundram Source Expert Review Green was added to PRR12.
Mode of inheritance for gene PRR12 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PRPS1 Achchuthan Shanmugasundram Publications for gene: PRPS1 were updated from 22246954; 17701896; 8498830 to 22246954; 17701896; 8498830; 6243137; 15240907; 7593598; 10503584; 171280; 17701900; 8968763; 2423135; 20021999
DDG2P v3.11 PRPF8 Achchuthan Shanmugasundram gene: PRPF8 was added
gene: PRPF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRPF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRPF8 were set to 33057194; 35543142; 29847639
Phenotypes for gene: PRPF8 were set to PRPF8-related developmental disorder (monoallelic)
DDG2P v3.11 PROSER1 Achchuthan Shanmugasundram gene: PROSER1 was added
gene: PROSER1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PROSER1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROSER1 were set to 35229282
Phenotypes for gene: PROSER1 were set to PROSER1-related developmental disorder
DDG2P v3.11 PRMT9 Achchuthan Shanmugasundram Mode of pathogenicity for gene PRMT9 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PRKG2 Achchuthan Shanmugasundram gene: PRKG2 was added
gene: PRKG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKG2 were set to 34782440; 36504352; 33106379
Phenotypes for gene: PRKG2 were set to PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636
DDG2P v3.11 PRKD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PRKAR1B Achchuthan Shanmugasundram gene: PRKAR1B was added
gene: PRKAR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKAR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKAR1B were set to 33057194; 33833410
Phenotypes for gene: PRKAR1B were set to PRKAR1B-related developmental disorder
Mode of pathogenicity for gene: PRKAR1B was set to Other
DDG2P v3.11 PRKAR1A Achchuthan Shanmugasundram Mode of pathogenicity for gene PRKAR1A was changed from Other - please provide details in the comments to Other
Publications for gene: PRKAR1A were updated from 22464252; 21651393; 22464250 to 22464250; 22464252; 21651393
DDG2P v3.11 PRKACB Achchuthan Shanmugasundram gene: PRKACB was added
gene: PRKACB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to PRKACB-related Multiple Congenital Malformation Syndrome
Mode of pathogenicity for gene: PRKACB was set to Other
DDG2P v3.11 PRKACA Achchuthan Shanmugasundram gene: PRKACA was added
gene: PRKACA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKACA were set to 33058759
Phenotypes for gene: PRKACA were set to PRKACA-related Multiple Congenital Malformation Syndrome
Mode of pathogenicity for gene: PRKACA was set to Other
DDG2P v3.11 PRIM1 Achchuthan Shanmugasundram gene: PRIM1 was added
gene: PRIM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to PRIM1-related Primordial Dwarfism
DDG2P v3.11 PREPL Achchuthan Shanmugasundram Source Expert Review Green was added to PREPL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PRDX3 Achchuthan Shanmugasundram gene: PRDX3 was added
gene: PRDX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDX3 were set to 35766882
Phenotypes for gene: PRDX3 were set to PRDX3-associated cerebellar ataxia
DDG2P v3.11 PRDM6 Achchuthan Shanmugasundram Mode of pathogenicity for gene PRDM6 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PRDM15 Achchuthan Shanmugasundram gene: PRDM15 was added
gene: PRDM15 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 33593823
Phenotypes for gene: PRDM15 were set to PRDM15-related renal and neurodevelopmental disorder
Mode of pathogenicity for gene: PRDM15 was set to Other
DDG2P v3.11 PRDM13 Achchuthan Shanmugasundram gene: PRDM13 was added
gene: PRDM13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM13 were set to 35390279
Phenotypes for gene: PRDM13 were set to PRDM13-related olivopentocerebellar hypoplasia syndrome
DDG2P v3.11 PQBP1 Achchuthan Shanmugasundram Publications for gene: PQBP1 were updated from 16740914; 13981686; 3177467; 16493439; 7943045; 14634649 to 13981686; 14634649; 3177467; 7943045; 16493439; 16740914
DDG2P v3.11 PPP3CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA.
Mode of pathogenicity for gene PPP3CA was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PPP2R5D Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP2R5D was changed from Other - please provide details in the comments to Other
Publications for gene: PPP2R5D were updated from 25533962 to 25972378; 36216457; 25533962; 26576547
DDG2P v3.11 PPP2R1A Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP2R1A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PPP2CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PPP1R21 Achchuthan Shanmugasundram gene: PPP1R21 was added
gene: PPP1R21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1R21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R21 were set to 30520571; 28940097; 29808498; 32985083
Phenotypes for gene: PPP1R21 were set to PPP1R21-related neurodevelopmental disorder
DDG2P v3.11 PPP1R13L Achchuthan Shanmugasundram gene: PPP1R13L was added
gene: PPP1R13L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 32666529; 28069640
Phenotypes for gene: PPP1R13L were set to PPP1R13L-related dilated cardiomyopathy
DDG2P v3.11 PPP1R12A Achchuthan Shanmugasundram gene: PPP1R12A was added
gene: PPP1R12A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP1R12A were set to 31883643
Phenotypes for gene: PPP1R12A were set to PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations
DDG2P v3.11 PPP1CB Achchuthan Shanmugasundram Mode of pathogenicity for gene PPP1CB was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PPM1D Achchuthan Shanmugasundram Publications for gene: PPM1D were updated from 28343630; 28135719 to 28135719; 28343630
DDG2P v3.11 PPIL1 Achchuthan Shanmugasundram gene: PPIL1 was added
gene: PPIL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
DDG2P v3.11 PPFIBP1 Achchuthan Shanmugasundram gene: PPFIBP1 was added
gene: PPFIBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to 30214071; 35830857
Phenotypes for gene: PPFIBP1 were set to PPFIBP1-related neurodevelopmental disorder
DDG2P v3.11 PPA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene PPA2 was changed from Other - please provide details in the comments to Other
Publications for gene: PPA2 were updated from 27523598; 27523597 to 27523598; 27523597; 34400813
DDG2P v3.11 POU4F1 Achchuthan Shanmugasundram gene: POU4F1 was added
gene: POU4F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POU4F1 were set to 33783914
Phenotypes for gene: POU4F1 were set to POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352
DDG2P v3.11 POU3F3 Achchuthan Shanmugasundram Mode of pathogenicity for gene POU3F3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 POU1F1 Achchuthan Shanmugasundram Publications for gene: POU1F1 were updated from 12629113; 7670563; 9626142; 2634610; 16968807; 11297581; 1472057; 15928241; 1302000; 1509262; 8768831 to 1509262; 12629113; 15928241; 2634610; 9626142; 1302000; 16968807; 8768831; 11297581; 1472057; 7670563
DDG2P v3.11 POT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene POT1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PORCN Achchuthan Shanmugasundram Publications for gene: PORCN were updated from 17546031; 17546030; 18325042 to 18325042; 17546031; 17546030
DDG2P v3.11 POMT2 Achchuthan Shanmugasundram Publications for gene: POMT2 were updated from 19138766; 17878207; 16701995; 15894594 to 19299310; 19138766; 17878207; 16701995; 17634419; 17923109; 15894594
DDG2P v3.11 POMT1 Achchuthan Shanmugasundram Publications for gene: POMT1 were updated from 22549409; 14678799 to 11053679; 19299310; 11320179; 17878207; 15037715; 14678799; 12369018; 31311558; 22549409; 16717220
DDG2P v3.11 POMP Achchuthan Shanmugasundram Mode of pathogenicity for gene POMP was changed from Other - please provide details in the comments to Other
DDG2P v3.11 POMK Achchuthan Shanmugasundram gene: POMK was added
gene: POMK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POMK were set to 32907597; 31833209; 24556084; 24925318
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
DDG2P v3.11 POMGNT1 Achchuthan Shanmugasundram Publications for gene: POMGNT1 were updated from 18195152; 22419172 to 19299310; 12588800; 22419172; 17878207; 15236414; 11709191; 18195152; 19067344
DDG2P v3.11 POLR3GL Achchuthan Shanmugasundram gene: POLR3GL was added
gene: POLR3GL was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3GL were set to 31089205
Phenotypes for gene: POLR3GL were set to Endosteal Hyperostosis and Oligodontia
DDG2P v3.11 POLR3B Achchuthan Shanmugasundram Mode of inheritance for gene POLR3B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: POLR3B were updated from 21937992 to 21937992; 33417887
DDG2P v3.11 POLR3A Achchuthan Shanmugasundram Publications for gene: POLR3A were updated from 21855841; 17159124; 22036171; 12605447; 30414627 to 21855841; 12605447; 22036171; 17159124; 30414627
DDG2P v3.11 POLR2A Achchuthan Shanmugasundram Mode of pathogenicity for gene POLR2A was changed from Other - please provide details in the comments to Other
Publications for gene: POLR2A were updated from 31353023 to 33665635; 35461703; 31353023
DDG2P v3.11 POLR1C Achchuthan Shanmugasundram Publications for gene: POLR1C were updated from 21131976 to 21131976; 32042905; 26151409
DDG2P v3.11 POLR1A Achchuthan Shanmugasundram Source Expert Review Green was added to POLR1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 POLG Achchuthan Shanmugasundram Mode of pathogenicity for gene POLG was changed from Other - please provide details in the comments to Other
DDG2P v3.11 POLE Achchuthan Shanmugasundram gene: POLE was added
gene: POLE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLE were set to 30503519; 25948378; 35860951; 23230001
Phenotypes for gene: POLE were set to IMAGe Syndrome with variable immunodeficiency
DDG2P v3.11 POLD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene POLD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 POGZ Achchuthan Shanmugasundram Publications for gene: POGZ were updated from 26942287; 25533962 to 25533962; 30879264; 27103995; 25694107; 26739615; 31782611; 26763879; 31136090; 26942287; 32103003; 27148570; 28480548; 31347273
DDG2P v3.11 POC1A Achchuthan Shanmugasundram Publications for gene: POC1A were updated from 22840364; 22440536 to 26336158; 22840363; 22440536; 22840364
DDG2P v3.11 PNPO Achchuthan Shanmugasundram gene: PNPO was added
gene: PNPO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPO were set to 24266778; 26108646; 24645144; 25762494; 33981986; 24658933; 28818555; 27014579; 26303608; 26535729
Phenotypes for gene: PNPO were set to PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090
DDG2P v3.11 PNPLA6 Achchuthan Shanmugasundram gene: PNPLA6 was added
gene: PNPLA6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to 25574898; 24355708; 25480986
Phenotypes for gene: PNPLA6 were set to PNPLA6-related Disorder
DDG2P v3.11 PNPLA2 Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA2.
Publications for gene: PNPLA2 were updated from 17187067; 22832386 to 22832386; 17187067
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PNPLA1 Achchuthan Shanmugasundram Source Expert Review Green was added to PNPLA1.
Mode of pathogenicity for gene PNPLA1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PNKP Achchuthan Shanmugasundram Publications for gene: PNKP were updated from 25728773 to 20118933; 25728773
DDG2P v3.11 PMS2 Achchuthan Shanmugasundram Publications for gene: PMS2 were updated from to 7661930; 26318770
DDG2P v3.11 PMPCB Achchuthan Shanmugasundram Source Expert Review Green was added to PMPCB.
Mode of pathogenicity for gene PMPCB was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PMM2 Achchuthan Shanmugasundram Publications for gene: PMM2 were updated from 17307006; 10527672; 9497260; 9887379; 10922383; 10602363; 19235233; 11916319; 9140401; 9781039; 21937992 to 21937992; 9887379; 10602363; 17307006; 10527672; 9781039; 9497260; 19235233; 9140401; 10801058; 11916319; 10922383
DDG2P v3.11 PLXND1 Achchuthan Shanmugasundram Source Expert Review Green was added to PLXND1.
Mode of inheritance for gene PLXND1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLXND1 were updated from 24254849 to 35396997; 24254849; 26068067
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 PLXNA1 Achchuthan Shanmugasundram gene: PLXNA1 was added
gene: PLXNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PLXNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLXNA1 were set to 34054129
Phenotypes for gene: PLXNA1 were set to PLXNA1-associated neurodevelopmental disorder (biallelic); PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic)
DDG2P v3.11 PLPBP Achchuthan Shanmugasundram Source Expert Review Green was added to PLPBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PLP1 Achchuthan Shanmugasundram Publications for gene: PLP1 were updated from 17438221; 9489796; 8320699; 8956049; 14452137 to 9056547; 8723686; 1384324; 8786077; 11071483; 7573159; 14452137; 8659540; 7574457; 8956049; 2773936; 1715570; 1605230; 7683951; 1720927; 8320699; 9489796; 17438221; 8696336; 2480601; 3827224; 1707231
DDG2P v3.11 PLOD2 Achchuthan Shanmugasundram Publications for gene: PLOD2 were updated from 15523624 to 35278031; 15523624
DDG2P v3.11 PLOD1 Achchuthan Shanmugasundram Publications for gene: PLOD1 were updated from 5016372; 9450904; 1345174; 8163671 to 8163671; 5016372; 1345174; 9450904
DDG2P v3.11 PLEC Achchuthan Shanmugasundram Source Expert Review Green was added to PLEC.
Publications for gene: PLEC were updated from to 35579050
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 PLCH1 Achchuthan Shanmugasundram gene: PLCH1 was added
gene: PLCH1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PLCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLCH1 were set to 33820834
Phenotypes for gene: PLCH1 were set to HPE-related disorder
Mode of pathogenicity for gene: PLCH1 was set to Other
DDG2P v3.11 PLCE1 Achchuthan Shanmugasundram Publications for gene: PLCE1 were updated from 17086182; 20591883 to 20591883; 17086182
DDG2P v3.11 PLCB4 Achchuthan Shanmugasundram Source Expert Review Green was added to PLCB4.
Mode of pathogenicity for gene PLCB4 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PLCB1 Achchuthan Shanmugasundram Source Expert Review Green was added to PLCB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PLAA Achchuthan Shanmugasundram Source Expert Review Green was added to PLAA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PKHD1 Achchuthan Shanmugasundram Publications for gene: PKHD1 were updated from 11919560; 19021639; 12506140 to 19021639; 12506140; 11919560
DDG2P v3.11 PKD1L1 Achchuthan Shanmugasundram Publications for gene: PKD1L1 were updated from 27616478 to 27616478; 35691949
DDG2P v3.11 PITX2 Achchuthan Shanmugasundram Publications for gene: PITX2 were updated from 8944018; 11301317; 11487566 to 11301317; 15591271; 11487566; 7581385; 8944018; 22224469; 8942889
DDG2P v3.11 PITX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PITX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIP5K1C Achchuthan Shanmugasundram Mode of pathogenicity for gene PIP5K1C was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIK3R2 Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3R2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIK3R1 Achchuthan Shanmugasundram Publications for gene: PIK3R1 were updated from 22351933 to 23810379; 28472977; 23810378; 22351933
DDG2P v3.11 PIK3CA Achchuthan Shanmugasundram Mode of pathogenicity for gene PIK3CA was changed from Other - please provide details in the comments to Other
Publications for gene: PIK3CA were updated from 22729224 to 22658544; 22729224
DDG2P v3.11 PIH1D3 Achchuthan Shanmugasundram Source Expert Review Green was added to PIH1D3.
Publications for gene: PIH1D3 were updated from 28041644 to 28041644; 28176794
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGY Achchuthan Shanmugasundram Source Expert Review Green was added to PIGY.
Mode of pathogenicity for gene PIGY was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGW Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGW was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIGV Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGV was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIGU Achchuthan Shanmugasundram Source Expert Review Green was added to PIGU.
Mode of inheritance for gene PIGU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene PIGU was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGT Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGT was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIGS Achchuthan Shanmugasundram Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGN Achchuthan Shanmugasundram Source Expert Review Green was added to PIGN.
Mode of pathogenicity for gene PIGN was changed from Other - please provide details in the comments to Other
Publications for gene: PIGN were updated from 21493957 to 21493957; 36322149
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIGM Achchuthan Shanmugasundram Mode of pathogenicity for gene PIGM was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PIGK Achchuthan Shanmugasundram gene: PIGK was added
gene: PIGK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGK were set to 32220290
Phenotypes for gene: PIGK were set to PIGK-associated Neurodevelopmental Syndrome
DDG2P v3.11 PIGH Achchuthan Shanmugasundram gene: PIGH was added
gene: PIGH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29603516; 29573052
Phenotypes for gene: PIGH were set to GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010
DDG2P v3.11 PIGG Achchuthan Shanmugasundram Source Expert Review Green was added to PIGG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIEZO2 Achchuthan Shanmugasundram Publications for gene: PIEZO2 were updated from 27653382; 27974811; 27912047 to 27974811; 27653382; 27912047; 24726473
DDG2P v3.11 PIEZO1 Achchuthan Shanmugasundram Source Expert Review Green was added to PIEZO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PIDD1 Achchuthan Shanmugasundram gene: PIDD1 was added
gene: PIDD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to 33414379
Phenotypes for gene: PIDD1 were set to PIDD1-related neurodevelopmental disorder
DDG2P v3.11 PIBF1 Achchuthan Shanmugasundram gene: PIBF1 was added
gene: PIBF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 29695797; 26167768
Phenotypes for gene: PIBF1 were set to JOUBERT SYNDROME 33, OMIM:617767
DDG2P v3.11 PI4KA Achchuthan Shanmugasundram gene: PI4KA was added
gene: PI4KA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310; 34415322; 25855803
Phenotypes for gene: PI4KA were set to PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
DDG2P v3.11 PHOX2B Achchuthan Shanmugasundram Mode of pathogenicity for gene PHOX2B was changed from Other - please provide details in the comments to Other
Publications for gene: PHOX2B were updated from 15024693; 12438263; 16691592 to 16691592; 16888290; 12640453; 12438263; 15024693
DDG2P v3.11 PHIP Achchuthan Shanmugasundram Publications for gene: PHIP were updated from 29209020; 23033978 to 23033978; 29209020
DDG2P v3.11 PHGDH Achchuthan Shanmugasundram Publications for gene: PHGDH were updated from 19235232; 11055895; 11034457 to 11034457; 11055895; 24836451; 19235232
DDG2P v3.11 PHF6 Achchuthan Shanmugasundram Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PHF6 were updated from 15994862; 12415272; 15466013 to 35662002; 15466013; 15994862; 12415272
DDG2P v3.11 PHF21A Achchuthan Shanmugasundram Source Expert Review Green was added to PHF21A.
Publications for gene: PHF21A were updated from to 36843358; 36876344
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PHC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PHC1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PHACTR1 Achchuthan Shanmugasundram Source Expert Review Green was added to PHACTR1.
Mode of pathogenicity for gene PHACTR1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PGM2L1 Achchuthan Shanmugasundram gene: PGM2L1 was added
gene: PGM2L1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM2L1 were set to 33979636
Phenotypes for gene: PGM2L1 were set to PGM2L1-related neurodevelopmental disorder
DDG2P v3.11 PGK1 Achchuthan Shanmugasundram Publications for gene: PGK1 were updated from 9512313; 6933565; 6941312; 8673469; 16740138; 19157875; 1586722; 16567715; 9744480; 1547346 to 16567715; 9512313; 1586722; 8673469; 1547346; 6933565; 16740138; 19157875; 9744480; 6941312
DDG2P v3.11 PGAP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene PGAP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PGAP1 Achchuthan Shanmugasundram Source Expert Review Green was added to PGAP1.
Publications for gene: PGAP1 were updated from 24784135; 26050939; 25804403 to 25804403; 26050939; 24784135
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PEX7 Achchuthan Shanmugasundram Publications for gene: PEX7 were updated from 9090381; 10083738; 12325024 to 9090381; 9090382; 12325024; 10083738; 9090383
DDG2P v3.11 PEX26 Achchuthan Shanmugasundram Publications for gene: PEX26 were updated from to 12851857
DDG2P v3.11 PEX2 Achchuthan Shanmugasundram Publications for gene: PEX2 were updated from to 14630978; 10528859
DDG2P v3.11 PEX1 Achchuthan Shanmugasundram Publications for gene: PEX1 were updated from to 9398847
DDG2P v3.11 PET100 Achchuthan Shanmugasundram Source Expert Review Green was added to PET100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PEPD Achchuthan Shanmugasundram Publications for gene: PEPD were updated from 17142620; 16470701; 19308961; 6637477; 1972707; 8900231; 2365824; 15309682 to 8900231; 1972707; 19308961; 17142620; 16470701; 2365824; 6637477; 15309682
DDG2P v3.11 PECR Achchuthan Shanmugasundram Mode of pathogenicity for gene PECR was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PDSS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PDSS1.
Mode of pathogenicity for gene PDSS1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PDIA6 Achchuthan Shanmugasundram gene: PDIA6 was added
gene: PDIA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 33495992; 35856135
Phenotypes for gene: PDIA6 were set to PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy
DDG2P v3.11 PDHX Achchuthan Shanmugasundram Publications for gene: PDHX were updated from 9399911; 9467010; 16566017; 8229524; 8584393; 11935326; 17152059; 21937992; 12557299 to 21937992; 17152059; 16566017; 9399911; 11935326; 8584393; 12557299; 8229524; 9467010
DDG2P v3.11 PDHA1 Achchuthan Shanmugasundram Publications for gene: PDHA1 were updated from 1909778; 8199595; 8032855; 3137520; 1907799; 2378353; 10486093; 12379317; 7573035; 1909401; 1293379; 2537010; 9686362; 8771169 to 8199595; 1909778; 1909401; 3137520; 10486093; 1293379; 12379317; 9686362; 7573035; 1907799; 2378353; 2537010; 8771169; 8032855
DDG2P v3.11 PDGFRB Achchuthan Shanmugasundram Mode of pathogenicity for gene PDGFRB was changed from Other - please provide details in the comments to Other
Publications for gene: PDGFRB were updated from 26279204 to 30941910; 32291752; 29226947; 26279204; 28639748; 23731542; 25454926
DDG2P v3.11 PDE6H Achchuthan Shanmugasundram Source Expert Review Green was added to PDE6H.
Publications for gene: PDE6H were updated from 15629837; 22901948 to 27472364; 22901948; 15629837
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PDE4D Achchuthan Shanmugasundram Mode of pathogenicity for gene PDE4D was changed from Other - please provide details in the comments to Other
Publications for gene: PDE4D were updated from 22464252; 22464250; 23033274 to 22464250; 22464252; 23033274
DDG2P v3.11 PDE10A Achchuthan Shanmugasundram Source Expert Review Green was added to PDE10A.
Mode of pathogenicity for gene PDE10A was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PDCD10 Achchuthan Shanmugasundram Publications for gene: PDCD10 were updated from to 16380626; 15543491
DDG2P v3.11 PCYT2 Achchuthan Shanmugasundram gene: PCYT2 was added
gene: PCYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCYT2 were set to 32889549; 31637422
Phenotypes for gene: PCYT2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033
DDG2P v3.11 PCYT1A Achchuthan Shanmugasundram Publications for gene: PCYT1A were updated from 24387990 to 24387991; 28272537; 24387990
DDG2P v3.11 PCGF2 Achchuthan Shanmugasundram Mode of pathogenicity for gene PCGF2 was changed from Other - please provide details in the comments to Other
Publications for gene: PCGF2 were updated from to 30526864
DDG2P v3.11 PCDHGC4 Achchuthan Shanmugasundram gene: PCDHGC4 was added
gene: PCDHGC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDHGC4 were set to 34244665
Phenotypes for gene: PCDHGC4 were set to PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures
DDG2P v3.11 PCDH19 Achchuthan Shanmugasundram Publications for gene: PCDH19 were updated from 19214208; 5116697; 18469813; 19752159 to 18469813; 5116697; 19752159; 19214208
DDG2P v3.11 PCDH12 Achchuthan Shanmugasundram gene: PCDH12 was added
gene: PCDH12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 28804758; 27164683; 30178464; 29556033; 30459466
Phenotypes for gene: PCDH12 were set to DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280
DDG2P v3.11 PCCA Achchuthan Shanmugasundram Publications for gene: PCCA were updated from 10820128; 8295402; 8225321; 10101253; 9683601; 9887338; 12189489; 17966092; 9385377; 8411997 to 12189489; 8225321; 10101253; 8411997; 9683601; 9385377; 10820128; 9887338; 17966092; 8295402
DDG2P v3.11 PCBP2 Achchuthan Shanmugasundram gene: PCBP2 was added
gene: PCBP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PCBP2 were set to PCBP2-related developmental disorder (monoallelic)
DDG2P v3.11 PCBD1 Achchuthan Shanmugasundram Publications for gene: PCBD1 were updated from 8352282; 9585615 to 9585615; 8352282
DDG2P v3.11 PC Achchuthan Shanmugasundram Publications for gene: PC were updated from 12112657; 9585612; 9585002; 19306334 to 9585612; 9585002; 19306334; 12112657
DDG2P v3.11 PBX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PBX1.
Source DD-Gene2Phenotype was added to PBX1.
Mode of inheritance for gene PBX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes PBX1-related developmental disorder (monoallelic) for gene: PBX1
Publications for gene: PBX1 were updated from to 35451537
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v3.11 PAX8 Achchuthan Shanmugasundram Publications for gene: PAX8 were updated from 15356023; 15718293; 11502839; 9590296; 11232006 to 11232006; 15356023; 11502839; 15718293; 9590296
DDG2P v3.11 PAX6 Achchuthan Shanmugasundram Publications for gene: PAX6 were updated from 17595013; 17148041 to 17595013; 7668281; 12721955; 9931324; 15629294; 17148041
DDG2P v3.11 PAX3 Achchuthan Shanmugasundram Mode of inheritance for gene PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PAX3 were updated from 6859126 to 8490648; 1887852; 7726174; 8664898; 1347148; 35607853; 6859126; 26443304; 12949970; 14556253; 1303193; 1308353; 8447316; 20478267
DDG2P v3.11 PAX2 Achchuthan Shanmugasundram Publications for gene: PAX2 were updated from 11093271; 3377002; 2644560; 11461952; 9106533; 7795640; 9760197 to 3377002; 9106533; 9760197; 2644560; 7795640; 11461952; 11093271
DDG2P v3.11 PAX1 Achchuthan Shanmugasundram gene: PAX1 was added
gene: PAX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 23851939; 28657137; 29681087
Phenotypes for gene: PAX1 were set to OTOFACIOCERVICAL SYNDROME, OMIM:166780
DDG2P v3.11 PARP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene PARP1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 PAPSS2 Achchuthan Shanmugasundram Publications for gene: PAPSS2 were updated from 22791835; 9714015; 19474428 to 9714015; 22791835; 19474428
DDG2P v3.11 PAN2 Achchuthan Shanmugasundram gene: PAN2 was added
gene: PAN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAN2 were set to 35304602
Phenotypes for gene: PAN2 were set to PAN2-related neurodevelopmental disorder with multiple congenital anomalies
DDG2P v3.11 PALB2 Achchuthan Shanmugasundram Publications for gene: PALB2 were updated from 17200671; 17200672 to 17200672; 17200671
DDG2P v3.11 PAK3 Achchuthan Shanmugasundram Publications for gene: PAK3 were updated from 17853471; 9332663; 8826460; 18523455; 12884430 to 12884430; 18523455; 8826460; 17853471; 24556213; 9332663
DDG2P v3.11 PAK1 Achchuthan Shanmugasundram Source Expert Review Green was added to PAK1.
Mode of pathogenicity for gene PAK1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PAH Achchuthan Shanmugasundram Publications for gene: PAH were updated from 2840952; 1360590; 2884570; 1301201; 7981714; 8829656; 1769645; 3008810; 1358789; 1363838; 2574002; 8088845; 8097261; 1312992; 2564729; 1349576; 2044609; 1671881; 2014802; 2573272; 1679030; 9950317; 1301200; 8098245; 8364546; 1975559; 2309142; 1301193; 1671810; 1682235; 1709636; 2035532; 1363837; 2071149; 2816939; 1301947; 2606484; 11935335; 1997387 to 1671810; 2816939; 8098245; 1975559; 1301200; 1301947; 8829656; 1301201; 2840952; 2014802; 1709636; 2044609; 2564729; 8097261; 11935335; 2035532; 2071149; 2573272; 2309142; 9950317; 1769645; 1671881; 1360590; 1997387; 1363838; 3008810; 1301193; 1363837; 1312992; 7981714; 1358789; 8364546; 1349576; 2606484; 2574002; 1682235; 2884570; 1679030; 8088845
DDG2P v3.11 PAFAH1B1 Achchuthan Shanmugasundram Publications for gene: PAFAH1B1 were updated from 14581661; 10441340; 11502906; 15007136 to 15007136; 10441340; 11502906; 14581661
DDG2P v3.11 PACS2 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2.
Mode of pathogenicity for gene PACS2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 PACS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1.
Mode of pathogenicity for gene PACS1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 P4HTM Achchuthan Shanmugasundram gene: P4HTM was added
gene: P4HTM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 35908151; 34285383; 30940925; 32965080
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493
DDG2P v3.11 P4HB Achchuthan Shanmugasundram Source Expert Review Green was added to P4HB.
Mode of pathogenicity for gene P4HB was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 P3H1 Achchuthan Shanmugasundram Publications for gene: P3H1 were updated from 17277775; 19088120 to 19088120; 17277775
DDG2P v3.11 OXR1 Achchuthan Shanmugasundram gene: OXR1 was added
gene: OXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXR1 were set to 31785787
Phenotypes for gene: OXR1 were set to Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
DDG2P v3.11 OXCT1 Achchuthan Shanmugasundram Publications for gene: OXCT1 were updated from 23281106; 1405472; 9671268; 10964512 to 10964512; 23281106; 1405472; 9671268
DDG2P v3.11 OTX2 Achchuthan Shanmugasundram Publications for gene: OTX2 were updated from 18854396; 20396904; 19965921; 19956411; 15846561; 18628516 to 15846561; 26974134; 19965921; 28388256; 20396904; 18628516; 19956411; 27299576; 18854396
DDG2P v3.11 OTULIN Achchuthan Shanmugasundram Publications for gene: OTULIN were updated from 27686184; 27523608; 27559085 to 27523608; 27686184; 27559085
DDG2P v3.11 OTUD6B Achchuthan Shanmugasundram Source Expert Review Green was added to OTUD6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 OTUD5 Achchuthan Shanmugasundram gene: OTUD5 was added
gene: OTUD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: OTUD5 were set to 33748114; 33131077; 33523931
Phenotypes for gene: OTUD5 were set to OTUD5-associated neurodevelopmental disorder
Mode of pathogenicity for gene: OTUD5 was set to Other
DDG2P v3.11 OTC Achchuthan Shanmugasundram Publications for gene: OTC were updated from 10405441; 3170748; 1721894; 2347583; 2843770; 1353535; 1480464; 11260212; 2035531; 9056557; 2037279; 7860064 to 1480464; 7860064; 2347583; 3170748; 2037279; 9056557; 2035531; 11260212; 10405441; 1721894; 1353535; 2843770
DDG2P v3.11 OSGEP Achchuthan Shanmugasundram Source Expert Review Green was added to OSGEP.
Mode of pathogenicity for gene OSGEP was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 OPHN1 Achchuthan Shanmugasundram Publications for gene: OPHN1 were updated from 12805098; 12807966; 16158428; 20528889; 9582072 to 20528889; 12805098; 12807966; 9582072; 16158428
DDG2P v3.11 ONECUT1 Achchuthan Shanmugasundram gene: ONECUT1 was added
gene: ONECUT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ONECUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ONECUT1 were set to 34663987
Phenotypes for gene: ONECUT1 were set to ONECUT1-associated neonatal diabetes
DDG2P v3.11 OGT Achchuthan Shanmugasundram gene: OGT was added
gene: OGT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OGT was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: OGT were set to OGT-related developmental disorder (hemizygous); OGT-related developmental disorder (X-linked dominant)
DDG2P v3.11 OGDHL Achchuthan Shanmugasundram gene: OGDHL was added
gene: OGDHL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDHL were set to 34800363
Phenotypes for gene: OGDHL were set to OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia
DDG2P v3.11 OGDH Achchuthan Shanmugasundram gene: OGDH was added
gene: OGDH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDH were set to 36520152; 32383294
Phenotypes for gene: OGDH were set to OGDH-related neurodevelopmental disorder
Mode of pathogenicity for gene: OGDH was set to Other
DDG2P v3.11 OFD1 Achchuthan Shanmugasundram Publications for gene: OFD1 were updated from 22353940; 19800048 to 11950863; 9198060; 15221448; 19800048; 9482645; 22353940; 16783569; 11179005
DDG2P v3.11 ODC1 Achchuthan Shanmugasundram gene: ODC1 was added
gene: ODC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ODC1 were set to ODC1-related developmental disorder (monoallelic)
DDG2P v3.11 OCRL Achchuthan Shanmugasundram Publications for gene: OCRL were updated from 15627218 to 15627218; 9632163; 9199559
DDG2P v3.11 OCLN Achchuthan Shanmugasundram gene: OCLN was added
gene: OCLN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OCLN were set to 32240828; 26689621; 20727516; 28179633
Phenotypes for gene: OCLN were set to OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria
DDG2P v3.11 NYX Achchuthan Shanmugasundram Publications for gene: NYX were updated from 11062471; 16670814; 11062472 to 11062471; 11062472; 16670814
DDG2P v3.11 NUS1 Achchuthan Shanmugasundram Source Expert Review Green was added to NUS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NUP62 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP62.
Mode of pathogenicity for gene NUP62 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NUP54 Achchuthan Shanmugasundram gene: NUP54 was added
gene: NUP54 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NUP54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP54 were set to 36333996
Phenotypes for gene: NUP54 were set to NUP54-related early-onset dystonia with striatal lesions
Mode of pathogenicity for gene: NUP54 was set to Other
DDG2P v3.11 NUP214 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP214.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NUP133 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP133.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NUP107 Achchuthan Shanmugasundram Source Expert Review Red was added to NUP107.
Publications for gene: NUP107 were updated from 26411495; 28280135 to 28280135; 26411495
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 NUDT2 Achchuthan Shanmugasundram gene: NUDT2 was added
gene: NUDT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 30059600; 27431290; 33058507
Phenotypes for gene: NUDT2 were set to NUDT2-related Developmental Disorder
DDG2P v3.11 NTRK2 Achchuthan Shanmugasundram Source Expert Review Green was added to NTRK2.
Mode of pathogenicity for gene NTRK2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NTRK1 Achchuthan Shanmugasundram Publications for gene: NTRK1 were updated from 10330344; 19250380; 10233776; 10861667; 10982191; 8696348; 10090906 to 19250380; 10233776; 10330344; 8145823; 10982191; 8696348; 10090906; 10861667
DDG2P v3.11 NTNG2 Achchuthan Shanmugasundram gene: NTNG2 was added
gene: NTNG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NTNG2 were set to 31372774; 31668703
Phenotypes for gene: NTNG2 were set to Developmental delay, hypotonia, and autistic features
DDG2P v3.11 NSUN2 Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN2.
Mode of pathogenicity for gene NSUN2 was changed from Other - please provide details in the comments to Other
Publications for gene: NSUN2 were updated from 22541562; 22577224; 22541559; 21063731 to 22541559; 21063731; 22577224; 22541562
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NSRP1 Achchuthan Shanmugasundram gene: NSRP1 was added
gene: NSRP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to NSRP1-associated developmental delay, epilepsy and microcephaly
DDG2P v3.11 NSMCE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene NSMCE3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NSDHL Achchuthan Shanmugasundram Publications for gene: NSDHL were updated from 11907515; 10710235 to 19377476; 11907515; 19842190; 10710235
DDG2P v3.11 NSD2 Achchuthan Shanmugasundram gene: NSD2 was added
gene: NSD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NSD2 were set to NSD2-related developmental disorder (monoallelic)
DDG2P v3.11 NSD1 Achchuthan Shanmugasundram Publications for gene: NSD1 were updated from 12525543; 11896389; 16222665 to 16222665; 12525543; 11896389
DDG2P v3.11 NRXN2 Achchuthan Shanmugasundram Source Expert Review Green was added to NRXN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NRXN1 Achchuthan Shanmugasundram Source Expert Review Green was added to NRXN1.
Publications for gene: NRXN1 were updated from to 22405623; 30031152; 30873608; 28289584; 27195815; 23495017
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NRROS Achchuthan Shanmugasundram gene: NRROS was added
gene: NRROS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRROS were set to 32197075
Phenotypes for gene: NRROS were set to NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification
DDG2P v3.11 NRCAM Achchuthan Shanmugasundram gene: NRCAM was added
gene: NRCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NRCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRCAM were set to 35108495
Phenotypes for gene: NRCAM were set to NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity
DDG2P v3.11 NRAS Achchuthan Shanmugasundram Mode of pathogenicity for gene NRAS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NR4A2 Achchuthan Shanmugasundram gene: NR4A2 was added
gene: NR4A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NR4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NR4A2 were set to NR4A2-related developmental disorder (monoallelic)
DDG2P v3.11 NR2F1 Achchuthan Shanmugasundram Publications for gene: NR2F1 were updated from 24462372 to 24462372; 26986877
DDG2P v3.11 NR1I3 Achchuthan Shanmugasundram Mode of pathogenicity for gene NR1I3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NPR3 Achchuthan Shanmugasundram Source Expert Review Green was added to NPR3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NPR2 Achchuthan Shanmugasundram Publications for gene: NPR2 were updated from to 15146390
DDG2P v3.11 NPM1 Achchuthan Shanmugasundram Source Expert Review Green was added to NPM1.
Mode of pathogenicity for gene NPM1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NPHS2 Achchuthan Shanmugasundram Publications for gene: NPHS2 were updated from 12464671; 8589695; 8606597; 10742096 to 10742096; 8606597; 12464671; 8589695
DDG2P v3.11 NPHS1 Achchuthan Shanmugasundram Publications for gene: NPHS1 were updated from 17290294; 11854170; 10577936; 9660941; 10652016 to 9660941; 10652016; 10577936; 17290294; 11854170
DDG2P v3.11 NPHP1 Achchuthan Shanmugasundram Publications for gene: NPHP1 were updated from 9326933; 10839884; 8852662; 9382140 to 9326933; 9382140; 8852662; 10839884
DDG2P v3.11 NPC2 Achchuthan Shanmugasundram Publications for gene: NPC2 were updated from 11125141; 11567215; 12447927; 17470133 to 12447927; 17470133; 11125141; 11567215
DDG2P v3.11 NPC1 Achchuthan Shanmugasundram Publications for gene: NPC1 were updated from 10480349; 11333381; 11349231; 12554680; 9245994; 11479732; 10521297; 9211849 to 11333381; 9245994; 9211849; 12554680; 10521297; 11479732; 11349231; 10480349
DDG2P v3.11 NOVA2 Achchuthan Shanmugasundram Source Expert Review Green was added to NOVA2.
Publications for gene: NOVA2 were updated from to 32197073
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NOTCH3 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NOTCH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOTCH2 was changed from Other - please provide details in the comments to Other
Publications for gene: NOTCH2 were updated from 21712856; 21378989; 21378985 to 21378985; 21378989; 21712856
DDG2P v3.11 NOTCH1 Achchuthan Shanmugasundram Source Expert Review Green was added to NOTCH1.
Publications for gene: NOTCH1 were updated from 25132448 to 25132448; 16025100
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NOP10 Achchuthan Shanmugasundram Mode of pathogenicity for gene NOP10 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NONO Achchuthan Shanmugasundram Source Expert Review Green was added to NONO.
Publications for gene: NONO were updated from 26571461; 27329731 to 36426740; 26571461; 27329731
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NOG Achchuthan Shanmugasundram Publications for gene: NOG were updated from 17668388 to 12089654; 15770128; 17668388; 11846737; 10069712; 11545688; 20503332
DDG2P v3.11 NMNAT1 Achchuthan Shanmugasundram Publications for gene: NMNAT1 were updated from 22842227; 22842230; 12734549 to 22842229; 24830548; 26464178; 26316326; 22842227; 12734549; 24940029; 22842230
DDG2P v3.11 NLGN3 Achchuthan Shanmugasundram Source Expert Review Green was added to NLGN3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NKX6-2 Achchuthan Shanmugasundram Source Expert Review Green was added to NKX6-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NKX2-5 Achchuthan Shanmugasundram Publications for gene: NKX2-5 were updated from to 20807224; 16418214; 11714651; 19948535
DDG2P v3.11 NKAP Achchuthan Shanmugasundram gene: NKAP was added
gene: NKAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NKAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NKAP were set to 31587868
Phenotypes for gene: NKAP were set to Marfanoid Habitus and Cognitive Impairment
Mode of pathogenicity for gene: NKAP was set to Other
DDG2P v3.11 NIPBL Achchuthan Shanmugasundram Publications for gene: NIPBL were updated from 15146185; 16799922; 15146186; 15318302; 11391654 to 15318302; 15146185; 11391654; 15146186; 16799922; 35446447
DDG2P v3.11 NHS Achchuthan Shanmugasundram Publications for gene: NHS were updated from 19414485; 11836358 to 15623749; 14564667; 458526; 2246772; 19414485; 11836358
DDG2P v3.11 NHP2 Achchuthan Shanmugasundram Source Expert Review Green was added to NHP2.
Mode of pathogenicity for gene NHP2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NHLRC2 Achchuthan Shanmugasundram gene: NHLRC2 was added
gene: NHLRC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC2 were set to 34165204; 32435055; 29423877
Phenotypes for gene: NHLRC2 were set to NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278
DDG2P v3.11 NFU1 Achchuthan Shanmugasundram Mode of pathogenicity for gene NFU1 was changed from Other - please provide details in the comments to Other
Publications for gene: NFU1 were updated from 22077971; 11156534 to 11156534; 22077971
DDG2P v3.11 NFIX Achchuthan Shanmugasundram Publications for gene: NFIX were updated from 20673863 to 20673863; 29897170; 22301465
DDG2P v3.11 NFIB Achchuthan Shanmugasundram Source Expert Review Green was added to NFIB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NFIA Achchuthan Shanmugasundram Source Expert Review Green was added to NFIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NFE2L2 Achchuthan Shanmugasundram gene: NFE2L2 was added
gene: NFE2L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NFE2L2 were set to 29018201
Phenotypes for gene: NFE2L2 were set to NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744
Mode of pathogenicity for gene: NFE2L2 was set to Other
DDG2P v3.11 NF1 Achchuthan Shanmugasundram Publications for gene: NF1 were updated from 1745350; 9529361; 11704931 to 11258625; 1745350; 9529361; 12483293; 10712197; 1937470; 12438263; 9003501; 1302608; 1783401; 12707950; 15523642; 15520408; 7655472; 11704931; 9668168; 10677298; 30308447; 7633431; 13680360; 8317503; 8664912; 1719426; 1568247; 19449407; 19845691; 15948193
DDG2P v3.11 NEXMIF Achchuthan Shanmugasundram Source Expert Review Green was added to NEXMIF.
Publications for gene: NEXMIF were updated from 27568816; 26576034; 27358180 to 33144681; 23615299; 26576034; 15466006; 27568816; 27358180
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NEU1 Achchuthan Shanmugasundram Publications for gene: NEU1 were updated from 10767332; 8985184; 14695530; 10944856; 9054950; 11470272; 11702224; 11829139 to 11829139; 11702224; 14695530; 10944856; 10767332; 8985184; 11470272; 9054950
DDG2P v3.11 NEK8 Achchuthan Shanmugasundram Source Expert Review Green was added to NEK8.
Publications for gene: NEK8 were updated from 23418306 to 18199800; 23418306
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NEDD4L Achchuthan Shanmugasundram Source Expert Review Green was added to NEDD4L.
Mode of pathogenicity for gene NEDD4L was changed from Other - please provide details in the comments to Other
Publications for gene: NEDD4L were updated from 23934111; 28515470; 27694961 to 27694961; 23934111; 28515470
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NECTIN4 Achchuthan Shanmugasundram Publications for gene: NECTIN4 were updated from 1646587; 21346770; 20691405 to 20691405; 21346770; 1646587
DDG2P v3.11 NEB Achchuthan Shanmugasundram Publications for gene: NEB were updated from 27105866; 27933661; 10051637 to 27105866; 10051637; 27933661
DDG2P v3.11 NDUFV2 Achchuthan Shanmugasundram gene: NDUFV2 was added
gene: NDUFV2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV2 were set to 26008862; 33811136
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
Mode of pathogenicity for gene: NDUFV2 was set to Other
DDG2P v3.11 NDUFV1 Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFV1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NDUFS8 Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFS8 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NDUFB8 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDUFB7 Achchuthan Shanmugasundram gene: NDUFB7 was added
gene: NDUFB7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047
Phenotypes for gene: NDUFB7 were set to NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy
DDG2P v3.11 NDUFB3 Achchuthan Shanmugasundram gene: NDUFB3 was added
gene: NDUFB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB3 were set to 27091925; 22499348; 22277967
Phenotypes for gene: NDUFB3 were set to NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246
DDG2P v3.11 NDUFB11 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFB11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDUFAF8 Achchuthan Shanmugasundram gene: NDUFAF8 was added
gene: NDUFAF8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 31866046
Phenotypes for gene: NDUFAF8 were set to NDUFAF8-related Leigh Syndrome
DDG2P v3.11 NDUFAF2 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFAF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDUFA9 Achchuthan Shanmugasundram Mode of pathogenicity for gene NDUFA9 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NDUFA8 Achchuthan Shanmugasundram gene: NDUFA8 was added
gene: NDUFA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related developmental disorder
DDG2P v3.11 NDUFA6 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDUFA12 Achchuthan Shanmugasundram gene: NDUFA12 was added
gene: NDUFA12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 33715266; 21617257
Phenotypes for gene: NDUFA12 were set to NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244
DDG2P v3.11 NDUFA10 Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA10.
Mode of pathogenicity for gene NDUFA10 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NDST1 Achchuthan Shanmugasundram Mode of pathogenicity for gene NDST1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NDP Achchuthan Shanmugasundram Publications for gene: NDP were updated from 8240113; 1307245; 1303264; 8069314; 17334993; 8268931; 8790105; 7814011; 9143918; 8990009; 9382152 to 7627181; 1307245; 8790105; 7814011; 24801666; 9382152; 17334993; 8069314; 8268931; 16163268; 17296899; 9143918; 1303264; 8240113; 8990009
DDG2P v3.11 NDNF Achchuthan Shanmugasundram gene: NDNF was added
gene: NDNF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NDNF were set to 31883645
Phenotypes for gene: NDNF were set to NDNF-related Congenital Hypogonadotrophic Hypogonadism
DDG2P v3.11 NDE1 Achchuthan Shanmugasundram Publications for gene: NDE1 were updated from 21529751; 21529752 to 21529752; 21529751
DDG2P v3.11 NCOR1 Achchuthan Shanmugasundram gene: NCOR1 was added
gene: NCOR1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: NCOR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NCOR1 were set to 30289594; 27824329
Phenotypes for gene: NCOR1 were set to NCOR1-related developmental disorder
DDG2P v3.11 NCKAP1 Achchuthan Shanmugasundram gene: NCKAP1 was added
gene: NCKAP1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: NCKAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NCKAP1 were set to 33157009
Phenotypes for gene: NCKAP1 were set to NCKAP1-related Neurodevelopmental Disorder
DDG2P v3.11 NCDN Achchuthan Shanmugasundram gene: NCDN was added
gene: NCDN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NCDN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NCDN were set to 33711248
Phenotypes for gene: NCDN were set to NCDN-associated neurodevelopmental disorder with seizures (monoallelic); NCDN-associated neurodevelopmental disorder with seizures (biallelic)
Mode of pathogenicity for gene: NCDN was set to Other
DDG2P v3.11 NCAPG2 Achchuthan Shanmugasundram Source Expert Review Green was added to NCAPG2.
Mode of pathogenicity for gene NCAPG2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NCAPD3 Achchuthan Shanmugasundram Mode of inheritance for gene NCAPD3 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 NCAPD2 Achchuthan Shanmugasundram Mode of inheritance for gene NCAPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 NBN Achchuthan Shanmugasundram Publications for gene: NBN were updated from 3802554; 9590180 to 9590180; 3802554
DDG2P v3.11 NBEA Achchuthan Shanmugasundram Source Expert Review Green was added to NBEA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NAXE Achchuthan Shanmugasundram Source Expert Review Green was added to NAXE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NAXD Achchuthan Shanmugasundram Source Expert Review Green was added to NAXD.
Mode of inheritance for gene NAXD was changed from to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NARS2 Achchuthan Shanmugasundram gene: NARS2 was added
gene: NARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NARS2 were set to 32020600; 25807530; 28716262; 28077841; 25385316; 30327238; 35703918; 34415467; 25629079
Phenotypes for gene: NARS2 were set to NARS2-associated oxidative phosphorylation deficiency
DDG2P v3.11 NARS Achchuthan Shanmugasundram gene: NARS was added
gene: NARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225; 32788587
Phenotypes for gene: NARS were set to NARS1 Neurodevelopmental Disorder (monoallelic); NARS1 Neurodevelopmental Disorder (biallelic)
DDG2P v3.11 NAPB Achchuthan Shanmugasundram gene: NAPB was added
gene: NAPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NAPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAPB were set to 28097321; 26235277; 33189936
Phenotypes for gene: NAPB were set to NAPB-related Neurodevelopmental Disorder
DDG2P v3.11 NALCN Achchuthan Shanmugasundram Publications for gene: NALCN were updated from 24075186 to 25683120; 24075186; 23749988
DDG2P v3.11 NAGS Achchuthan Shanmugasundram Publications for gene: NAGS were updated from 12754705; 12594532 to 12594532; 12754705
DDG2P v3.11 NAGLU Achchuthan Shanmugasundram Publications for gene: NAGLU were updated from 12202988; 11068184; 10094189; 9832037; 8650226; 21937992 to 11068184; 21937992; 12202988; 10094189; 8650226; 9832037
DDG2P v3.11 NAGA Achchuthan Shanmugasundram Publications for gene: NAGA were updated from 2243144; 8071745 to 2564952; 2243144; 8071745; 11251574; 8782044
DDG2P v3.11 NAE1 Achchuthan Shanmugasundram gene: NAE1 was added
gene: NAE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NAE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAE1 were set to 36608681
Phenotypes for gene: NAE1 were set to NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
Mode of pathogenicity for gene: NAE1 was set to Other
DDG2P v3.11 NADSYN1 Achchuthan Shanmugasundram gene: NADSYN1 was added
gene: NADSYN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NADSYN1 were set to 31883644; 35491967
Phenotypes for gene: NADSYN1 were set to NADSYN1-related Congenital NAD Deficiency Disorder
DDG2P v3.11 NACC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene NACC1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 NAA20 Achchuthan Shanmugasundram gene: NAA20 was added
gene: NAA20 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: NAA20 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAA20 were set to 34230638
Phenotypes for gene: NAA20 were set to NAA20-associated developmental delay and microcephaly
Mode of pathogenicity for gene: NAA20 was set to Other
DDG2P v3.11 NAA15 Achchuthan Shanmugasundram Source Expert Review Green was added to NAA15.
Publications for gene: NAA15 were updated from 28191889; 23665959 to 28191889; 29656860; 23665959
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 NAA10 Achchuthan Shanmugasundram Publications for gene: NAA10 were updated from 24431331 to 24431331; 30842225; 21700266; 25099252
DDG2P v3.11 MYT1L Achchuthan Shanmugasundram Publications for gene: MYT1L were updated from to 28859103
DDG2P v3.11 MYSM1 Achchuthan Shanmugasundram gene: MYSM1 was added
gene: MYSM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 26220525; 32640305; 28115216; 33618624; 24288411
Phenotypes for gene: MYSM1 were set to MYSM1-related congenital bone marrow failure, OMIM:618116
DDG2P v3.11 MYRF Achchuthan Shanmugasundram Source Expert Review Green was added to MYRF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYPN Achchuthan Shanmugasundram Source Expert Review Green was added to MYPN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYOCD Achchuthan Shanmugasundram Source Expert Review Green was added to MYOCD.
Mode of inheritance for gene MYOCD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYO7A Achchuthan Shanmugasundram Publications for gene: MYO7A were updated from 7870171 to 7870171; 9171833
DDG2P v3.11 MYO5B Achchuthan Shanmugasundram Publications for gene: MYO5B were updated from 18724368; 19006234 to 19006234; 18724368
DDG2P v3.11 MYO5A Achchuthan Shanmugasundram Publications for gene: MYO5A were updated from 12148598 to 22711375; 9207796; 12148598
DDG2P v3.11 MYO18B Achchuthan Shanmugasundram gene: MYO18B was added
gene: MYO18B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO18B were set to 25748484; 31195167; 27858739; 32184166; 32637634
Phenotypes for gene: MYO18B were set to KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM, OMIM:616549
DDG2P v3.11 MYLPF Achchuthan Shanmugasundram gene: MYLPF was added
gene: MYLPF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYLPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYLPF were set to 32707087
Phenotypes for gene: MYLPF were set to MYLPF arthrogryposis (monoallelic); MYLPF arthrogryposis (biallelic)
Mode of pathogenicity for gene: MYLPF was set to Other
DDG2P v3.11 MYLK Achchuthan Shanmugasundram Source Expert Review Green was added to MYLK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYL1 Achchuthan Shanmugasundram gene: MYL1 was added
gene: MYL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYL1 were set to 30215711
Phenotypes for gene: MYL1 were set to MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414
DDG2P v3.11 MYH9 Achchuthan Shanmugasundram Mode of pathogenicity for gene MYH9 was changed from to Other
Publications for gene: MYH9 were updated from 25077172 to 10973259; 25077172
DDG2P v3.11 MYH8 Achchuthan Shanmugasundram Source Expert Review Red was added to MYH8.
Publications for gene: MYH8 were updated from to 28377322; 15282353
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 MYH6 Achchuthan Shanmugasundram Source Expert Review Red was added to MYH6.
Publications for gene: MYH6 were updated from to 15735645; 29536580; 31638415; 20656787; 29969989; 29505555; 34481090
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 MYH3 Achchuthan Shanmugasundram Mode of inheritance for gene MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH3 were updated from 16642020; 29805041 to 29805041; 18695058; 16642020
DDG2P v3.11 MYH11 Achchuthan Shanmugasundram Publications for gene: MYH11 were updated from 29575632; 25407000 to 25407000; 29575632
DDG2P v3.11 MYH10 Achchuthan Shanmugasundram Publications for gene: MYH10 were updated from 25356899; 25003005 to 25003005; 25356899
DDG2P v3.11 MYF5 Achchuthan Shanmugasundram Source Expert Review Green was added to MYF5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MYCN Achchuthan Shanmugasundram Publications for gene: MYCN were updated from 16906565; 18470948; 18671284; 15821734 to 16906565; 15821734; 18671284; 18470948
DDG2P v3.11 MYCBP2 Achchuthan Shanmugasundram gene: MYCBP2 was added
gene: MYCBP2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MYCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYCBP2 were set to 36200388
Phenotypes for gene: MYCBP2 were set to MYCBP2-related developmental delay with corpus callosum defects
DDG2P v3.11 MYBPC1 Achchuthan Shanmugasundram gene: MYBPC1 was added
gene: MYBPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYBPC1 were set to 31264822; 31966463; 22610851; 26661508; 25679999; 20045868
Phenotypes for gene: MYBPC1 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915; MYBPC1-related arthrogryposis and myopathy
DDG2P v3.11 MUT Achchuthan Shanmugasundram Publications for gene: MUT were updated from 1977311; 16281286; 2881300; 1670635; 7951229; 7909321; 17966092; 1968706; 11528502; 16451139 to 1670635; 11528502; 1977311; 7909321; 7951229; 2881300; 16451139; 16281286; 1968706; 17966092
DDG2P v3.11 MTSS1L Achchuthan Shanmugasundram gene: MTSS1L was added
gene: MTSS1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MTSS1L were set to 36067766
Phenotypes for gene: MTSS1L were set to MTSS2-associated syndromic intellectual disability
Mode of pathogenicity for gene: MTSS1L was set to Other
DDG2P v3.11 MTRR Achchuthan Shanmugasundram Publications for gene: MTRR were updated from 12555939; 15714522; 9501215 to 15714522; 9501215; 12555939
DDG2P v3.11 MTR Achchuthan Shanmugasundram Publications for gene: MTR were updated from 8968736; 9683607; 8968737; 12068375 to 8968737; 12068375; 8968736; 9683607
DDG2P v3.11 MTOR Achchuthan Shanmugasundram Mode of pathogenicity for gene MTOR was changed from Other - please provide details in the comments to Other
Publications for gene: MTOR were updated from 28892148 to 23934111; 28892148
DDG2P v3.11 MTM1 Achchuthan Shanmugasundram Publications for gene: MTM1 were updated from 12859411; 11552027; 12707446; 9450905; 7611280; 8640223; 10790201; 9285787 to 9285787; 8640223; 12707446; 7611280; 9450905; 12859411; 11552027; 10790201
DDG2P v3.11 MT-TL1 Achchuthan Shanmugasundram gene: MT-TL1 was added
gene: MT-TL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 34075211
Phenotypes for gene: MT-TL1 were set to MT-TL1-associated mitochondrial disorder
Mode of pathogenicity for gene: MT-TL1 was set to Other
DDG2P v3.11 MSX1 Achchuthan Shanmugasundram Publications for gene: MSX1 were updated from 12807959; 15354328 to 11369996; 15354328; 12807959
DDG2P v3.11 MSL2 Achchuthan Shanmugasundram gene: MSL2 was added
gene: MSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MSL2 were set to 33057194; 31332282
Phenotypes for gene: MSL2 were set to MSL2-related developmental disorder (monoallelic)
DDG2P v3.11 MSI1 Achchuthan Shanmugasundram Mode of pathogenicity for gene MSI1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MRPS34 Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS34.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MRPS22 Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS22.
Mode of pathogenicity for gene MRPS22 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MRPS2 Achchuthan Shanmugasundram Source Expert Review Green was added to MRPS2.
Mode of pathogenicity for gene MRPS2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MRE11 Achchuthan Shanmugasundram Publications for gene: MRE11 were updated from 10612394 to 11371508; 24332946; 15269180; 10612394
DDG2P v3.11 MRAS Achchuthan Shanmugasundram gene: MRAS was added
gene: MRAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MRAS were set to 28289718; 31173466; 31108500
Phenotypes for gene: MRAS were set to NOONAN SYNDROME 11, OMIM:618499
Mode of pathogenicity for gene: MRAS was set to Other
DDG2P v3.11 MPZ Achchuthan Shanmugasundram gene: MPZ was added
gene: MPZ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MPZ were set to 15184631; 8816708; 12953275; 26310628
Phenotypes for gene: MPZ were set to NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184
Mode of pathogenicity for gene: MPZ was set to Other
DDG2P v3.11 MPV17 Achchuthan Shanmugasundram Publications for gene: MPV17 were updated from 18695062; 16582910 to 16582910; 18695062
DDG2P v3.11 MPI Achchuthan Shanmugasundram Publications for gene: MPI were updated from 9585601; 9525984; 3080572 to 9525984; 9585601; 3080572
DDG2P v3.11 MPC2 Achchuthan Shanmugasundram gene: MPC2 was added
gene: MPC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC2 were set to 36417180
Phenotypes for gene: MPC2 were set to MPC2-related metabolic disorder
Mode of pathogenicity for gene: MPC2 was set to Other
DDG2P v3.11 MORC2 Achchuthan Shanmugasundram Source Expert Review Green was added to MORC2.
Mode of inheritance for gene MORC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene MORC2 was changed from to Other
Publications for gene: MORC2 were updated from 26497905 to 32693025; 30624633; 28771897; 26497905
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 MOGS Achchuthan Shanmugasundram Source Expert Review Green was added to MOGS.
Mode of pathogenicity for gene MOGS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MNX1 Achchuthan Shanmugasundram Publications for gene: MNX1 were updated from 9843207; 15216552; 10631160; 16906559; 7550324 to 15216552; 16906559; 10631160; 7550324; 9843207
DDG2P v3.11 MN1 Achchuthan Shanmugasundram Source Expert Review Green was added to MN1.
Publications for gene: MN1 were updated from 21242494 to 31839203; 31834374; 21242494
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MMP15 Achchuthan Shanmugasundram gene: MMP15 was added
gene: MMP15 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP15 were set to 34988996; 33875846
Phenotypes for gene: MMP15 were set to MMP15-related developmental disorder
DDG2P v3.11 MMP14 Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP14 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MMP13 Achchuthan Shanmugasundram Mode of pathogenicity for gene MMP13 was changed from Other - please provide details in the comments to Other
Publications for gene: MMP13 were updated from 8412645; 19615667 to 19615667; 8412645
DDG2P v3.11 MMGT1 Achchuthan Shanmugasundram gene: MMGT1 was added
gene: MMGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MMGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: MMGT1 were set to 33057194
Phenotypes for gene: MMGT1 were set to MMGT1-related developmental disorder
Mode of pathogenicity for gene: MMGT1 was set to Other
DDG2P v3.11 MMACHC Achchuthan Shanmugasundram Publications for gene: MMACHC were updated from 16311595; 16714133; 11320193; 20631720 to 20631720; 16311595; 16714133; 25687216; 11320193
DDG2P v3.11 MLC1 Achchuthan Shanmugasundram Publications for gene: MLC1 were updated from 11254442; 12189496; 14615938; 11935341; 21624973 to 11935341; 11254442; 12189496; 21624973; 14615938
DDG2P v3.11 MITF Achchuthan Shanmugasundram Mode of inheritance for gene MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MITF were updated from 27889061 to 8490648; 9158138; 10851256; 7874167; 9856573; 8589691; 27889061
DDG2P v3.11 MIR184 Achchuthan Shanmugasundram Mode of pathogenicity for gene MIR184 was changed from Other - please provide details in the comments to Other
Publications for gene: MIR184 were updated from 21996275 to 24138095; 23833072; 21996275; 27195078; 25373792
DDG2P v3.11 MIR17HG Achchuthan Shanmugasundram Source Expert Review Green was added to MIR17HG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MIB1 Achchuthan Shanmugasundram gene: MIB1 was added
gene: MIB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIB1 were set to 33057194; 30322850
Phenotypes for gene: MIB1 were set to MIB1-related developmental disorder (monoallelic)
DDG2P v3.11 MGAT2 Achchuthan Shanmugasundram Publications for gene: MGAT2 were updated from 11228641; 20684000; 8808595 to 8808595; 11228641; 20684000
DDG2P v3.11 MFSD2A Achchuthan Shanmugasundram Mode of pathogenicity for gene MFSD2A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MFRP Achchuthan Shanmugasundram Publications for gene: MFRP were updated from 17167404 to 15976030; 17167404; 1258954
DDG2P v3.11 MFN2 Achchuthan Shanmugasundram gene: MFN2 was added
gene: MFN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MFN2 were set to 33057194
Phenotypes for gene: MFN2 were set to MFN2-related developmental disorder
Mode of pathogenicity for gene: MFN2 was set to Other
DDG2P v3.11 MFF Achchuthan Shanmugasundram gene: MFF was added
gene: MFF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFF were set to 26783368; 30581454; 22499341; 32181496
Phenotypes for gene: MFF were set to ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, OMIM:617086
DDG2P v3.11 METTL5 Achchuthan Shanmugasundram Source Expert Review Green was added to METTL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 METTL23 Achchuthan Shanmugasundram gene: METTL23 was added
gene: METTL23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL23 were set to 32067349; 24626631; 24501276
Phenotypes for gene: METTL23 were set to METTL23-related Intellectual Disability
DDG2P v3.11 MESP2 Achchuthan Shanmugasundram Publications for gene: MESP2 were updated from 18485326; 15122512 to 15122512; 18485326
DDG2P v3.11 MESD Achchuthan Shanmugasundram Source Expert Review Green was added to MESD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MEOX1 Achchuthan Shanmugasundram Source Expert Review Green was added to MEOX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MEIS2 Achchuthan Shanmugasundram gene: MEIS2 was added
gene: MEIS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MEIS2 were set to MEIS2-related developmental disorder (monoallelic)
DDG2P v3.11 MEGF10 Achchuthan Shanmugasundram Publications for gene: MEGF10 were updated from 22101682; 17236770; 22371254 to 17236770; 22101682; 22371254
DDG2P v3.11 MEF2C Achchuthan Shanmugasundram Publications for gene: MEF2C were updated from 20513142; 23001426; 19592390 to 19592390; 34022131; 35719119; 20513142; 23001426
DDG2P v3.11 MED27 Achchuthan Shanmugasundram gene: MED27 was added
gene: MED27 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to MED27-related neurodevelopmental disorder
DDG2P v3.11 MED25 Achchuthan Shanmugasundram gene: MED25 was added
gene: MED25 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 31602195; 25792360; 25527630; 32324310
Phenotypes for gene: MED25 were set to Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449
Mode of pathogenicity for gene: MED25 was set to Other
DDG2P v3.11 MED23 Achchuthan Shanmugasundram Mode of pathogenicity for gene MED23 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MED17 Achchuthan Shanmugasundram Source Expert Review Green was added to MED17.
Mode of pathogenicity for gene MED17 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MED13L Achchuthan Shanmugasundram Source Expert Review Green was added to MED13L.
Publications for gene: MED13L were updated from 23403903 to 25712080; 29511999; 25758992; 25137640; 24781760; 28371282; 28645799; 29159987; 29959045; 23403903
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MED13 Achchuthan Shanmugasundram Source Expert Review Green was added to MED13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MED12 Achchuthan Shanmugasundram Mode of inheritance for gene MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: MED12 were updated from 6711603 to 33244166; 17369503; 31536828; 6711603; 24123922; 17334363; 24715367; 28544239; 27980443; 27312080; 33244165; 30006928; 27286923; 27500536; 35385210
DDG2P v3.11 MED11 Achchuthan Shanmugasundram gene: MED11 was added
gene: MED11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086
Phenotypes for gene: MED11 were set to MED11-associated neurodevelopmental disorder
Mode of pathogenicity for gene: MED11 was set to Other
DDG2P v3.11 MECR Achchuthan Shanmugasundram Source Expert Review Green was added to MECR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MECP2 Achchuthan Shanmugasundram Publications for gene: MECP2 were updated from 11402105; 11238684; 29618507 to 15689435; 10232754; 11313756; 11402105; 19034540; 11007980; 9377804; 10814718; 15034579; 10854091; 29618507; 11238684; 16966553; 12481990; 10508514; 10767337; 11022934; 16630165; 12615169; 15857422; 18989701; 10577905; 11930274; 11807877; 11214906
DDG2P v3.11 MECOM Achchuthan Shanmugasundram Source Expert Review Green was added to MECOM.
Mode of pathogenicity for gene MECOM was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MDH2 Achchuthan Shanmugasundram Source Expert Review Green was added to MDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MCPH1 Achchuthan Shanmugasundram Publications for gene: MCPH1 were updated from 12046007; 7693575; 11857108; 16311745; 20978018 to 20978018; 7693575; 16311745; 12046007; 11857108
DDG2P v3.11 MCOLN1 Achchuthan Shanmugasundram Publications for gene: MCOLN1 were updated from 10441585; 15523648; 17239335; 10973263; 11030752 to 11030752; 10441585; 10973263; 15523648; 17239335
DDG2P v3.11 MC2R Achchuthan Shanmugasundram Publications for gene: MC2R were updated from 8227361; 18407210; 12213892; 18492762; 8636348; 8094489 to 18407210; 18492762; 8094489; 8636348; 8227361; 12213892
DDG2P v3.11 MBOAT7 Achchuthan Shanmugasundram Source Expert Review Green was added to MBOAT7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MBD5 Achchuthan Shanmugasundram Source Expert Review Green was added to MBD5.
Publications for gene: MBD5 were updated from to 23422940
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 MAU2 Achchuthan Shanmugasundram gene: MAU2 was added
gene: MAU2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MAU2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAU2 were set to 32433956
Phenotypes for gene: MAU2 were set to MAU2 neurodevelopmental disorder
DDG2P v3.11 MATN3 Achchuthan Shanmugasundram Mode of pathogenicity for gene MATN3 was changed from Other - please provide details in the comments to Other
Publications for gene: MATN3 were updated from 15948199; 11479597; 13849708; 14729835 to 14729835; 15948199; 13849708; 11479597
DDG2P v3.11 MAT1A Achchuthan Shanmugasundram Source Expert Review Green was added to MAT1A.
Publications for gene: MAT1A were updated from 8770875; 1527987; 10677294; 7560086; 7229751; 3812486; 1683972; 4421454 to 7560086; 4421454; 3812486; 8770875; 1527987; 7229751; 1683972; 10677294
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAST1 Achchuthan Shanmugasundram gene: MAST1 was added
gene: MAST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAST1 were set to MAST1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: MAST1 was set to Other
DDG2P v3.11 MASP1 Achchuthan Shanmugasundram Publications for gene: MASP1 were updated from 17937425; 21258343; 21035106 to 21258343; 21035106; 17937425
DDG2P v3.11 MAPRE2 Achchuthan Shanmugasundram Mode of pathogenicity for gene MAPRE2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MAPKAPK5 Achchuthan Shanmugasundram gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 35575217; 33442026
Phenotypes for gene: MAPKAPK5 were set to MAPKAPK5-associated syndrome with synpolydactyly
DDG2P v3.11 MAPK8IP3 Achchuthan Shanmugasundram Source Expert Review Green was added to MAPK8IP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAPK1 Achchuthan Shanmugasundram gene: MAPK1 was added
gene: MAPK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to MAPK1-related Neurodevelopmental Disorder
Mode of pathogenicity for gene: MAPK1 was set to Other
DDG2P v3.11 MAP3K7 Achchuthan Shanmugasundram Source Expert Review Green was added to MAP3K7.
Mode of pathogenicity for gene MAP3K7 was changed from Other - please provide details in the comments to Other
Publications for gene: MAP3K7 were updated from 27426734; 27426733 to 27426733; 27426734
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAP3K1 Achchuthan Shanmugasundram Publications for gene: MAP3K1 were updated from 5419329; 21129722; 12476449 to 21129722; 5419329; 12476449
DDG2P v3.11 MAP2K2 Achchuthan Shanmugasundram Mode of pathogenicity for gene MAP2K2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MAP2K1 Achchuthan Shanmugasundram Mode of pathogenicity for gene MAP2K1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 MAOA Achchuthan Shanmugasundram Source Expert Review Green was added to MAOA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MANBA Achchuthan Shanmugasundram Publications for gene: MANBA were updated from 16401745; 12890191; 3762648; 1499588; 2079835; 1623631 to 1499588; 16401745; 3762648; 2079835; 12890191; 1623631
DDG2P v3.11 MAN2C1 Achchuthan Shanmugasundram gene: MAN2C1 was added
gene: MAN2C1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to MAN2C1-associated neurodevelopmental disorder with cerebral malformations
DDG2P v3.11 MAN2B1 Achchuthan Shanmugasundram Publications for gene: MAN2B1 were updated from 22161967; 4358183; 9158146; 9758606 to 9758606; 9158146; 4358183; 22161967
DDG2P v3.11 MAN2A2 Achchuthan Shanmugasundram gene: MAN2A2 was added
gene: MAN2A2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2A2 were set to 36357165
Phenotypes for gene: MAN2A2 were set to MAN2A2-related disorder of glycosylation
Mode of pathogenicity for gene: MAN2A2 was set to Other
DDG2P v3.11 MAN1B1 Achchuthan Shanmugasundram Mode of pathogenicity for gene MAN1B1 was changed from Other - please provide details in the comments to Other
Publications for gene: MAN1B1 were updated from 26577042; 24348268; 21763484; 24566669; 26279649; 21937992 to 21937992; 26279649; 24566669; 26577042; 21763484; 24348268
DDG2P v3.11 MAMLD1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAMLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAGEL2 Achchuthan Shanmugasundram Publications for gene: MAGEL2 were updated from 26365340 to 27195816; 26365340; 24076603
DDG2P v3.11 MAFB Achchuthan Shanmugasundram Publications for gene: MAFB were updated from 27181683 to 27181683; 22387013
DDG2P v3.11 MAF Achchuthan Shanmugasundram Mode of pathogenicity for gene MAF was changed from Other - please provide details in the comments to Other
Publications for gene: MAF were updated from 16470690; 11772997 to 11772997; 24664492; 16470690
DDG2P v3.11 MADD Achchuthan Shanmugasundram gene: MADD was added
gene: MADD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MADD were set to 32761064
Phenotypes for gene: MADD were set to MADD-related developmental disorder
DDG2P v3.11 MACF1 Achchuthan Shanmugasundram Source Expert Review Green was added to MACF1.
Mode of pathogenicity for gene MACF1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 MAB21L2 Achchuthan Shanmugasundram Publications for gene: MAB21L2 were updated from 24906020 to 25719200; 24906020; 26116559
DDG2P v3.11 MAB21L1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAB21L1.
Publications for gene: MAB21L1 were updated from 27103078; 30487245 to 30487245; 27103078
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LZTR1 Achchuthan Shanmugasundram Source Expert Review Green was added to LZTR1.
Mode of pathogenicity for gene LZTR1 was changed from Other - please provide details in the comments to Other
Publications for gene: LZTR1 were updated from 30368668; 29959388 to 29959388; 31825158; 25795793; 30859559; 30664951; 30368668; 31533111
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LYST Achchuthan Shanmugasundram Publications for gene: LYST were updated from 8896560; 9215679; 8751863; 11857544; 10482950; 9215680 to 9215680; 11857544; 8896560; 8751863; 10482950; 9215679; 8751864
DDG2P v3.11 LTBP2 Achchuthan Shanmugasundram Publications for gene: LTBP2 were updated from 19656777; 19361779 to 20617341; 19361779; 22025892; 19656777; 20179738
DDG2P v3.11 LTBP1 Achchuthan Shanmugasundram gene: LTBP1 was added
gene: LTBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to LTBP1-related cutis laxa and craniosynostosis
DDG2P v3.11 LRRC56 Achchuthan Shanmugasundram Source Expert Review Green was added to LRRC56.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LRP5 Achchuthan Shanmugasundram Publications for gene: LRP5 were updated from 20034086; 11719191 to 15981244; 14727154; 11719191; 9056564; 15024691; 20034086; 12579474; 11741193; 9831343
DDG2P v3.11 LRP4 Achchuthan Shanmugasundram Publications for gene: LRP4 were updated from 11260233; 14577675; 9182770; 10756427; 18978656; 20381006; 12868467 to 18978656; 9182770; 11260233; 14577675; 10756427; 12868467; 20381006
DDG2P v3.11 LRP2 Achchuthan Shanmugasundram Publications for gene: LRP2 were updated from 23033978 to 17632512; 29388841; 23992033; 23033978; 19577669
DDG2P v3.11 LRIT3 Achchuthan Shanmugasundram Source Expert Review Green was added to LRIT3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LRIG2 Achchuthan Shanmugasundram Source Expert Review Green was added to LRIG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LRBA Achchuthan Shanmugasundram Source Expert Review Green was added to LRBA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LRAT Achchuthan Shanmugasundram Source Expert Review Green was added to LRAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LONP1 Achchuthan Shanmugasundram Source Expert Review Green was added to LONP1.
Publications for gene: LONP1 were updated from 25574826 to 34547244; 25574826
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LNPK Achchuthan Shanmugasundram Source Expert Review Green was added to LNPK.
Publications for gene: LNPK were updated from 30032983 to 35599435; 30032983
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 LMX1B Achchuthan Shanmugasundram Publications for gene: LMX1B were updated from 9618165; 9837817; 10854116; 9590287; 18414507 to 10854116; 9837817; 9590287; 9618165; 18414507
DDG2P v3.11 LMOD3 Achchuthan Shanmugasundram gene: LMOD3 was added
gene: LMOD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMOD3 were set to 31572445; 30642739; 28815944; 30291184; 25250574; 29331079; 32008911
Phenotypes for gene: LMOD3 were set to NEMALINE MYOPATHY 10, OMIM:616165
DDG2P v3.11 LMNB2 Achchuthan Shanmugasundram gene: LMNB2 was added
gene: LMNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNB2 were set to 33033404
Phenotypes for gene: LMNB2 were set to LMNB2-related Primary Microcephaly
Mode of pathogenicity for gene: LMNB2 was set to Other
DDG2P v3.11 LMNB1 Achchuthan Shanmugasundram gene: LMNB1 was added
gene: LMNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNB1 were set to 32910914; 33033404
Phenotypes for gene: LMNB1 were set to LMNB1-associated developmental disorder
Mode of pathogenicity for gene: LMNB1 was set to Other
DDG2P v3.11 LMNA Achchuthan Shanmugasundram Mode of inheritance for gene LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMNA were updated from to 10587585; 10655060
DDG2P v3.11 LMBRD2 Achchuthan Shanmugasundram gene: LMBRD2 was added
gene: LMBRD2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: LMBRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LMBRD2 were set to 32820033
Phenotypes for gene: LMBRD2 were set to LMBRD2-associated intellectual disability
Mode of pathogenicity for gene: LMBRD2 was set to Other
DDG2P v3.11 LIPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT2.
Mode of pathogenicity for gene LIPT2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LIPT1 Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT1.
Mode of pathogenicity for gene LIPT1 was changed from Other - please provide details in the comments to Other
Publications for gene: LIPT1 were updated from 24341803; 27247813; 24256811 to 27247813; 24341803; 24256811
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LIPN Achchuthan Shanmugasundram Source Expert Review Green was added to LIPN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LINS1 Achchuthan Shanmugasundram Source Expert Review Green was added to LINS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LINGO1 Achchuthan Shanmugasundram Source Expert Review Green was added to LINGO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LIG4 Achchuthan Shanmugasundram Publications for gene: LIG4 were updated from 16357942 to 11779494; 16357942
DDG2P v3.11 LIFR Achchuthan Shanmugasundram gene: LIFR was added
gene: LIFR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIFR were set to 27194968; 14740318
Phenotypes for gene: LIFR were set to Stuve-Wiedeman syndrome, OMIM:601559
DDG2P v3.11 LIAS Achchuthan Shanmugasundram Source Expert Review Green was added to LIAS.
Mode of pathogenicity for gene LIAS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LHX3 Achchuthan Shanmugasundram Publications for gene: LHX3 were updated from 18407919; 17327381; 10835633 to 18407919; 10835633; 17327381
DDG2P v3.11 LGI4 Achchuthan Shanmugasundram Source Expert Review Green was added to LGI4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LFNG Achchuthan Shanmugasundram Mode of pathogenicity for gene LFNG was changed from Other - please provide details in the comments to Other
DDG2P v3.11 LETM1 Achchuthan Shanmugasundram gene: LETM1 was added
gene: LETM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to LETM1-related neurodevelopmental disorder
Mode of pathogenicity for gene: LETM1 was set to Other
DDG2P v3.11 LEMD3 Achchuthan Shanmugasundram Publications for gene: LEMD3 were updated from 17223882; 19438932; 12749062; 9295073; 15489854 to 19438932; 12749062; 17223882; 15489854; 9295073
DDG2P v3.11 LEMD2 Achchuthan Shanmugasundram Source Expert Review Green was added to LEMD2.
Mode of pathogenicity for gene LEMD2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LDB3 Achchuthan Shanmugasundram Source Expert Review Red was added to LDB3.
Mode of pathogenicity for gene LDB3 was changed from Other - please provide details in the comments to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 LAS1L Achchuthan Shanmugasundram Mode of inheritance for gene LAS1L was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of pathogenicity for gene LAS1L was changed from to Other
Publications for gene: LAS1L were updated from 25644381 to 25644381; 34653234
DDG2P v3.11 LARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to LARS2.
Mode of pathogenicity for gene LARS2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LARP7 Achchuthan Shanmugasundram Publications for gene: LARP7 were updated from 26374271; 21937992; 26607181 to 21937992; 26374271; 26607181
DDG2P v3.11 LARGE1 Achchuthan Shanmugasundram Publications for gene: LARGE1 were updated from 12966029; 21248746 to 17436019; 19299310; 12966029; 21248746; 19067344
DDG2P v3.11 LAMP2 Achchuthan Shanmugasundram Publications for gene: LAMP2 were updated from 12112061; 15673802; 3087571; 10972294; 15253947; 8504498; 15907287 to 15907287; 8504498; 12112061; 10972294; 15253947; 15673802; 3087571
DDG2P v3.11 LAMB1 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 LAMA2 Achchuthan Shanmugasundram Publications for gene: LAMA2 were updated from 9158149; 12601554; 18700894; 16216942; 7550355; 11071490; 12552556; 11591858 to 12601554; 11591858; 9158149; 18700894; 7550355; 11071490; 16216942; 12552556
DDG2P v3.11 LAMA1 Achchuthan Shanmugasundram Publications for gene: LAMA1 were updated from 21937992 to 21937992; 25105227
DDG2P v3.11 LAGE3 Achchuthan Shanmugasundram Mode of pathogenicity for gene LAGE3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 L2HGDH Achchuthan Shanmugasundram Publications for gene: L2HGDH were updated from 19911013; 15385440 to 15385440; 19911013
DDG2P v3.11 L1CAM Achchuthan Shanmugasundram Publications for gene: L1CAM were updated from 7920659; 7920660; 3460961 to 3460961; 15368500; 7920660; 9643285; 9279760; 8401576; 15148591; 1303258; 8929944; 18136715; 11857550; 26916325; 8401593; 7881431; 7920659
DDG2P v3.11 KRT74 Achchuthan Shanmugasundram Source Expert Review Green was added to KRT74.
Mode of pathogenicity for gene KRT74 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KRAS Achchuthan Shanmugasundram Mode of pathogenicity for gene KRAS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KPTN Achchuthan Shanmugasundram Source Expert Review Green was added to KPTN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KPNA7 Achchuthan Shanmugasundram Mode of inheritance for gene KPNA7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene KPNA7 was changed from to Other
DDG2P v3.11 KMT2E Achchuthan Shanmugasundram Publications for gene: KMT2E were updated from 31079897 to 31079897; 34321323
DDG2P v3.11 KMT2D Achchuthan Shanmugasundram Publications for gene: KMT2D were updated from to 29283410; 27573763; 31935506; 28404210; 31949313; 29482518; 25944076; 24739679; 32083401; 27302555; 25142838; 30569626; 27530205; 25972376; 35060672; 20711175; 21607748; 29914387; 28295206; 21671394
DDG2P v3.11 KMT2C Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KMT2B Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2B.
Publications for gene: KMT2B were updated from 27992417; 27839873 to 27839873; 27992417
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KMT2A Achchuthan Shanmugasundram Publications for gene: KMT2A were updated from to 24818805; 30841869; 22795537; 25929198; 32311999; 24886118; 27759909; 28815892; 25810209; 29203834; 27777327; 31044088; 31168168; 31250358; 30549396; 27320412
DDG2P v3.11 KLHL7 Achchuthan Shanmugasundram Source Expert Review Green was added to KLHL7.
Publications for gene: KLHL7 were updated from 27392078 to 29074562; 27392078
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KLF8 Achchuthan Shanmugasundram Mode of inheritance for gene KLF8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v3.11 KLF7 Achchuthan Shanmugasundram gene: KLF7 was added
gene: KLF7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KLF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KLF7 were set to 29251763
Phenotypes for gene: KLF7 were set to KLF7-related developmental disorder
Mode of pathogenicity for gene: KLF7 was set to Other
DDG2P v3.11 KLF1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KLF1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KITLG Achchuthan Shanmugasundram Mode of pathogenicity for gene KITLG was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KIRREL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene KIRREL3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KIF5C Achchuthan Shanmugasundram Source Expert Review Green was added to KIF5C.
Mode of pathogenicity for gene KIF5C was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIF5B Achchuthan Shanmugasundram gene: KIF5B was added
gene: KIF5B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF5B were set to 36018820; 35342932
Phenotypes for gene: KIF5B were set to KIF5B-related disease
Mode of pathogenicity for gene: KIF5B was set to Other
DDG2P v3.11 KIF5A Achchuthan Shanmugasundram gene: KIF5A was added
gene: KIF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF5A were set to 27463701; 27414745
Phenotypes for gene: KIF5A were set to KIF5A-associated severe neonatal myoclonus, OMIM:617235
DDG2P v3.11 KIF3B Achchuthan Shanmugasundram gene: KIF3B was added
gene: KIF3B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF3B were set to 32386558
Phenotypes for gene: KIF3B were set to KIF3B-related ciliopathy
Mode of pathogenicity for gene: KIF3B was set to Other
DDG2P v3.11 KIF2A Achchuthan Shanmugasundram Source Expert Review Green was added to KIF2A.
Mode of pathogenicity for gene KIF2A was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIF22 Achchuthan Shanmugasundram Mode of pathogenicity for gene KIF22 was changed from Other - please provide details in the comments to Other
Publications for gene: KIF22 were updated from 19277648; 22152678 to 22152678; 19277648
DDG2P v3.11 KIF1A Achchuthan Shanmugasundram Publications for gene: KIF1A were updated from 21820098 to 25253658; 25265257; 26125038; 26486474; 21820098; 30385166; 21376300; 32096284; 26354034
DDG2P v3.11 KIF14 Achchuthan Shanmugasundram Source Expert Review Green was added to KIF14.
Publications for gene: KIF14 were updated from 24128419; 28892560 to 28892560; 24128419
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIF11 Achchuthan Shanmugasundram Publications for gene: KIF11 were updated from 15930898; 22284827 to 22284827; 15930898
DDG2P v3.11 KIDINS220 Achchuthan Shanmugasundram Source Expert Review Green was added to KIDINS220.
Mode of inheritance for gene KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were updated from 27005418 to 32909676; 28934391; 27005418
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIAA1109 Achchuthan Shanmugasundram Source Expert Review Green was added to KIAA1109.
Mode of pathogenicity for gene KIAA1109 was changed from Other - please provide details in the comments to Other
Publications for gene: KIAA1109 were updated from 25558065 to 29290337; 25558065
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KIAA0586 Achchuthan Shanmugasundram Publications for gene: KIAA0586 were updated from 26026149; 26437029 to 26437029; 26026149
DDG2P v3.11 KIAA0391 Achchuthan Shanmugasundram gene: KIAA0391 was added
gene: KIAA0391 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to 34715011
Phenotypes for gene: KIAA0391 were set to PRORP-related mitochondrial disorder
DDG2P v3.11 KDM6B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KDM5C Achchuthan Shanmugasundram Publications for gene: KDM5C were updated from 18203167; 19826449; 18697827; 21575681; 15586325; 16538222; 10982473 to 18203167; 15586325; 19826449; 18697827; 21575681; 16538222; 10982473
DDG2P v3.11 KDM5B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM5B.
Publications for gene: KDM5B were updated from 28720891; 30409806; 24307393 to 29276005; 24307393; 30409806; 28135719; 28720891
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KDM5A Achchuthan Shanmugasundram Mode of pathogenicity for gene KDM5A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KDM4B Achchuthan Shanmugasundram gene: KDM4B was added
gene: KDM4B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KDM4B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM4B were set to 33232677
Phenotypes for gene: KDM4B were set to KDM4B-related Developmental Disorder
DDG2P v3.11 KDM3B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM3B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KDM2B Achchuthan Shanmugasundram gene: KDM2B was added
gene: KDM2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to KDM2B-related neurodevelopmental disorder
DDG2P v3.11 KDM1A Achchuthan Shanmugasundram Source Expert Review Green was added to KDM1A.
Mode of pathogenicity for gene KDM1A was changed from Other - please provide details in the comments to Other
Publications for gene: KDM1A were updated from 26656649 to 29559475; 26656649
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KDELR2 Achchuthan Shanmugasundram gene: KDELR2 was added
gene: KDELR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDELR2 were set to 33053334
Phenotypes for gene: KDELR2 were set to KDELR2-related Osteogenesis Imperfecta
DDG2P v3.11 KCTD7 Achchuthan Shanmugasundram Publications for gene: KCTD7 were updated from 17455289; 22693283; 22748208 to 22693283; 17455289; 22748208
DDG2P v3.11 KCTD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCTD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNT2 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNT2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNT1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNQ5 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNQ5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNQ3 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNQ3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNQ2 Achchuthan Shanmugasundram Publications for gene: KCNQ2 were updated from 22275249; 12742592 to 25880994; 28832002; 27602407; 15249611; 28687180; 22926866; 25566516; 17872363; 27861786; 28728838; 25092550; 9430594; 23774309; 30107960; 11175290; 24107868; 11572947; 31199083; 28631195; 10323247; 23692823; 23621294; 31152295; 29687029; 31951342; 9425895; 16235065; 24371303; 22169383; 31418850; 30530441; 22275249; 12742592
DDG2P v3.11 KCNN3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNN3.
Mode of pathogenicity for gene KCNN3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNMA1 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNMA1.
Mode of inheritance for gene KCNMA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KCNMA1 were updated from 15937479 to 34224328; 31152168; 15937479; 27567911; 33178487; 29545233; 32132200; 29330545
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 KCNK9 Achchuthan Shanmugasundram Mode of inheritance for gene KCNK9 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Mode of pathogenicity for gene KCNK9 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNK4 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK4.
Mode of pathogenicity for gene KCNK4 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNK3 Achchuthan Shanmugasundram gene: KCNK3 was added
gene: KCNK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNK3 were set to 33057194
Phenotypes for gene: KCNK3 were set to KCNK3-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: KCNK3 was set to Other
DDG2P v3.11 KCNJ8 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ8.
Mode of pathogenicity for gene KCNJ8 was changed from Other - please provide details in the comments to Other
Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 24700710; 24176758; 25275207
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNJ6 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNJ6.
Mode of pathogenicity for gene KCNJ6 was changed from Other - please provide details in the comments to Other
Publications for gene: KCNJ6 were updated from 25620207 to 25620207; 36071510
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNJ11 Achchuthan Shanmugasundram Publications for gene: KCNJ11 were updated from 8923010 to 8923010; 9356020
DDG2P v3.11 KCNJ10 Achchuthan Shanmugasundram Publications for gene: KCNJ10 were updated from 20651251; 19289823; 19420365; 21849804 to 19420365; 19289823; 20651251; 21849804
DDG2P v3.11 KCNH5 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH5.
Publications for gene: KCNH5 were updated from 23647072 to 36307226; 23647072
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 KCNH1 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH1.
Mode of pathogenicity for gene KCNH1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNE1 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNE1.
Mode of inheritance for gene KCNE1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity for gene KCNE1 was changed from Other - please provide details in the comments to Other
Publications for gene: KCNE1 were updated from to 30461122
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCND3 Achchuthan Shanmugasundram gene: KCND3 was added
gene: KCND3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCND3 were set to KCND3-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: KCND3 was set to Other
DDG2P v3.11 KCNC3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNC3.
Mode of pathogenicity for gene KCNC3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 KCNC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNC1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNB1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 KCNA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene KCNA4 was changed from Other - please provide details in the comments to Other
Publications for gene: KCNA4 were updated from to 27582084
DDG2P v3.11 KCNA1 Achchuthan Shanmugasundram gene: KCNA1 was added
gene: KCNA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KCNA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KCNA1 were set to 30055040; 33355533; 31586945
Phenotypes for gene: KCNA1 were set to KCNA1-related epileptic encephalopathy, biallelic; KCNA1-related epileptic encephalopathy, monoallelic
Mode of pathogenicity for gene: KCNA1 was set to Other
DDG2P v3.11 KBTBD13 Achchuthan Shanmugasundram Mode of pathogenicity for gene KBTBD13 was changed from Other - please provide details in the comments to Other
Publications for gene: KBTBD13 were updated from 21104864; 21109227; 12805120 to 21109227; 21104864; 12805120
DDG2P v3.11 KATNB1 Achchuthan Shanmugasundram gene: KATNB1 was added
gene: KATNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379
Phenotypes for gene: KATNB1 were set to KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS
DDG2P v3.11 KAT6B Achchuthan Shanmugasundram Publications for gene: KAT6B were updated from 12210330; 12949978; 16761293; 12210329; 22265014 to 31871732; 12949978; 27696664; 22077973; 28696035; 24458743; 30353918; 26370006; 26334766; 25424711; 12210330; 29226580; 28758091; 16761293; 28232779; 30569622; 22265017; 30900427; 28426343; 23436491; 12210329; 22265014
DDG2P v3.11 KAT6A Achchuthan Shanmugasundram Publications for gene: KAT6A were updated from 25728775; 30245513 to 29899504; 25728777; 30775047; 27133397; 30245513; 25728775; 35892268; 32041641; 31754438
DDG2P v3.11 KAT5 Achchuthan Shanmugasundram gene: KAT5 was added
gene: KAT5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KAT5 were set to 32822602
Phenotypes for gene: KAT5 were set to KAT5-related Neurodevelopmental Syndrome
Mode of pathogenicity for gene: KAT5 was set to Other
DDG2P v3.11 KARS Achchuthan Shanmugasundram Publications for gene: KARS were updated from 23768514 to 20920668; 23768514
DDG2P v3.11 KANSL1 Achchuthan Shanmugasundram Publications for gene: KANSL1 were updated from 22544367; 22544363 to 22544363; 22544367
DDG2P v3.11 KANK1 Achchuthan Shanmugasundram Mode of inheritance for gene KANK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 JMJD1C Achchuthan Shanmugasundram gene: JMJD1C was added
gene: JMJD1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JMJD1C were set to 26181491; 31954878
Phenotypes for gene: JMJD1C were set to JMJD1C-related neurodevelopmental disorder
DDG2P v3.11 JARID2 Achchuthan Shanmugasundram gene: JARID2 was added
gene: JARID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: JARID2 were set to 33077894; 35533077
Phenotypes for gene: JARID2 were set to JARID2-related Neurodevelopmental Disorder
DDG2P v3.11 JAM3 Achchuthan Shanmugasundram Source Expert Review Green was added to JAM3.
Publications for gene: JAM3 were updated from 21109224; 23255084 to 23255084; 21109224
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 JAK3 Achchuthan Shanmugasundram Publications for gene: JAK3 were updated from 10982185; 7659163; 11741532; 7481768 to 7659163; 10982185; 7481768; 11741532
DDG2P v3.11 JAG2 Achchuthan Shanmugasundram gene: JAG2 was added
gene: JAG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JAG2 were set to 33861953
Phenotypes for gene: JAG2 were set to JAG2-related muscular dystrophy
DDG2P v3.11 JAG1 Achchuthan Shanmugasundram Publications for gene: JAG1 were updated from to 35761784
DDG2P v3.11 IVD Achchuthan Shanmugasundram Publications for gene: IVD were updated from 2063866; 15486829; 10677295; 1310317 to 15486829; 1310317; 10677295; 2063866
DDG2P v3.11 ITPR1 Achchuthan Shanmugasundram Publications for gene: ITPR1 were updated from 27108798; 27108797 to 27062503; 22986007; 27108797; 27108798
DDG2P v3.11 ITGA8 Achchuthan Shanmugasundram Source Expert Review Green was added to ITGA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ITCH Achchuthan Shanmugasundram Source Expert Review Green was added to ITCH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ISPD Achchuthan Shanmugasundram Publications for gene: ISPD were updated from 23217329; 22522420; 22522421; 7604843; 9492098 to 22522420; 7604843; 22522421; 9492098; 23217329
DDG2P v3.11 IRX5 Achchuthan Shanmugasundram Source Expert Review Green was added to IRX5.
Mode of pathogenicity for gene IRX5 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 IRF6 Achchuthan Shanmugasundram Publications for gene: IRF6 were updated from 12219090; 20803643 to 12920575; 19842205; 12219090; 20803643; 18478600; 14618417; 14757865
DDG2P v3.11 IRF2BPL Achchuthan Shanmugasundram Source Expert Review Green was added to IRF2BPL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 IREB2 Achchuthan Shanmugasundram gene: IREB2 was added
gene: IREB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IREB2 were set to 35602653; 31243445; 30915432
Phenotypes for gene: IREB2 were set to IREB2-related neurodevelopmental disorder
DDG2P v3.11 IQSEC2 Achchuthan Shanmugasundram Mode of inheritance for gene IQSEC2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: IQSEC2 were updated from 3177466; 7943039; 20473311 to 29026562; 24306141; 26733290; 26793055; 27665735; 30206421; 23674175; 31415821; 3177466; 31490346; 7943039; 31829726; 28295038; 20473311; 28815955; 30666632
DDG2P v3.11 IQSEC1 Achchuthan Shanmugasundram gene: IQSEC1 was added
gene: IQSEC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IQSEC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQSEC1 were set to 31607425
Phenotypes for gene: IQSEC1 were set to Intellectual Disability, Developmental Delay, and Short Stature
Mode of pathogenicity for gene: IQSEC1 was set to Other
DDG2P v3.11 IPO8 Achchuthan Shanmugasundram gene: IPO8 was added
gene: IPO8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IPO8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IPO8 were set to 34010604; 34010605
Phenotypes for gene: IPO8 were set to IPO8-related syndromic thoracic aortic aneurysm
DDG2P v3.11 INPP5K Achchuthan Shanmugasundram Source Expert Review Green was added to INPP5K.
Mode of pathogenicity for gene INPP5K was changed from Other - please provide details in the comments to Other
Publications for gene: INPP5K were updated from 28190459; 28190456 to 28190459; 28190456; 28940338
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 INPP5E Achchuthan Shanmugasundram Publications for gene: INPP5E were updated from 19668216 to 19668215; 19668216
DDG2P v3.11 IL1RAPL1 Achchuthan Shanmugasundram Publications for gene: IL1RAPL1 were updated from 16470793; 18801879; 10471494; 19012350 to 10471494; 18801879; 16470793; 19012350
DDG2P v3.11 IL11 Achchuthan Shanmugasundram Mode of pathogenicity for gene IL11 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 IKBKG Achchuthan Shanmugasundram Publications for gene: IKBKG were updated from 16818673 to 10839543; 11242109; 16228229; 9450877; 11224521; 15356572; 12045264; 14726382; 15577852; 117248; 16818673; 11047757
DDG2P v3.11 IHH Achchuthan Shanmugasundram Mode of pathogenicity for gene IHH was changed from Other - please provide details in the comments to Other
Publications for gene: IHH were updated from 12632327 to 12384778; 12525541; 16871364; 19277064; 18629882; 12632327; 11455389
DDG2P v3.11 IGHMBP2 Achchuthan Shanmugasundram Publications for gene: IGHMBP2 were updated from 11528396; 15290238 to 15290238; 11528396
DDG2P v3.11 IGFBP7 Achchuthan Shanmugasundram Source Expert Review Green was added to IGFBP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 IGF1R Achchuthan Shanmugasundram Publications for gene: IGF1R were updated from 14657428 to 15928254; 14657428; 22130793; 17264177
DDG2P v3.11 IGF1 Achchuthan Shanmugasundram Publications for gene: IGF1 were updated from 15769976; 8857020; 14684690 to 15769976; 14684690; 8857020
DDG2P v3.11 IGBP1 Achchuthan Shanmugasundram Mode of pathogenicity for gene IGBP1 was changed from Other - please provide details in the comments to Other
Publications for gene: IGBP1 were updated from to 23871722
DDG2P v3.11 IFT80 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT80 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 IFT74 Achchuthan Shanmugasundram gene: IFT74 was added
gene: IFT74 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 27486776; 33748949; 32144365; 33531668
Phenotypes for gene: IFT74 were set to IFT74-associated ciliopathy, OMIM:617119
DDG2P v3.11 IFT43 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT43 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 IFT122 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT122 was changed from Other - please provide details in the comments to Other
Publications for gene: IFT122 were updated from 19760620; 17022080; 20493458 to 17022080; 19760620; 20493458
DDG2P v3.11 IFITM5 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFITM5 was changed from Other - please provide details in the comments to Other
Publications for gene: IFITM5 were updated from 22863195; 22863190 to 22863190; 22863195
DDG2P v3.11 IFIH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene IFIH1 was changed from Other - please provide details in the comments to Other
Publications for gene: IFIH1 were updated from 25620204 to 24995871; 25620204
DDG2P v3.11 IDUA Achchuthan Shanmugasundram Publications for gene: IDUA were updated from 8328452; 6821579; 7951228; 8664897; 10735634 to 8328452; 7951228; 10466419; 10735634; 4221470; 6821579; 7550232; 9391892; 8664897
DDG2P v3.11 IDS Achchuthan Shanmugasundram Publications for gene: IDS were updated from 1639384; 1303211; 7581397; 1355630; 1550586; 12794697; 1284597; 8940265; 8364592 to 1550586; 1303211; 1284597; 8364592; 7581397; 1355630; 8940265; 12794697; 1639384
DDG2P v3.11 IARS2 Achchuthan Shanmugasundram Publications for gene: IARS2 were updated from 25130867 to 25130867; 28328135
DDG2P v3.11 IARS Achchuthan Shanmugasundram Source Expert Review Green was added to IARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HYLS1 Achchuthan Shanmugasundram Mode of pathogenicity for gene HYLS1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HYDIN Achchuthan Shanmugasundram Publications for gene: HYDIN were updated from 14985390; 23022101 to 23022101; 14985390
DDG2P v3.11 HYAL2 Achchuthan Shanmugasundram gene: HYAL2 was added
gene: HYAL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 28081210; 34906488
Phenotypes for gene: HYAL2 were set to HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies
DDG2P v3.11 HUWE1 Achchuthan Shanmugasundram Mode of inheritance for gene HUWE1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene HUWE1 was changed from Other - please provide details in the comments to Other
Publications for gene: HUWE1 were updated from 7943042; 18252223 to 7943042; 29180823; 18252223; 23721686
DDG2P v3.11 HSPG2 Achchuthan Shanmugasundram Publications for gene: HSPG2 were updated from 11279527 to 11101850; 11941538; 11279527
DDG2P v3.11 HSF4 Achchuthan Shanmugasundram Mode of pathogenicity for gene HSF4 was changed from Other - please provide details in the comments to Other
Publications for gene: HSF4 were updated from 12089525 to 16876512; 12089525; 29243736; 24637349
DDG2P v3.11 HSD17B4 Achchuthan Shanmugasundram Publications for gene: HSD17B4 were updated from 9482850; 9345094; 11992265; 11743515; 10400999; 2921319 to 9345094; 10400999; 11992265; 11743515; 9482850; 4061497; 2921319
DDG2P v3.11 HSD17B10 Achchuthan Shanmugasundram Publications for gene: HSD17B10 were updated from 10521307 to 10521307; 12555940; 16148061; 12696021
DDG2P v3.11 HS2ST1 Achchuthan Shanmugasundram gene: HS2ST1 was added
gene: HS2ST1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to HS2ST1-related Developmental Disorder
DDG2P v3.11 HRAS Achchuthan Shanmugasundram Mode of pathogenicity for gene HRAS was changed from Other - please provide details in the comments to Other
Publications for gene: HRAS were updated from 17468812; 18247425; 16835863; 17412879; 16443854; 17056636; 18039947; 17054105; 19995790; 16170316 to 17054105; 16835863; 18039947; 18247425; 17412879; 17468812; 16170316; 19995790; 16443854; 17056636
DDG2P v3.11 HR Achchuthan Shanmugasundram Publications for gene: HR were updated from 9856480; 10469319; 10205263; 12271294; 10051399 to 19897589; 17680008; 9856480; 9758627; 9445480; 10051399; 10777357; 10205263; 10469319; 12271294; 9463324
DDG2P v3.11 HPSE2 Achchuthan Shanmugasundram Publications for gene: HPSE2 were updated from 11446407; 19669792; 20560210; 19839856 to 19839856; 19669792; 11446407; 20560210
DDG2P v3.11 HPS1 Achchuthan Shanmugasundram Publications for gene: HPS1 were updated from 9705234; 8896559; 10971344; 8274781; 9497254 to 9705234; 9497254; 10971344; 8274781; 8896559
DDG2P v3.11 HPRT1 Achchuthan Shanmugasundram Publications for gene: HPRT1 were updated from to 23975452
DDG2P v3.11 HPDL Achchuthan Shanmugasundram gene: HPDL was added
gene: HPDL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to HPDL Neurodegenerative Disease
DDG2P v3.11 HPD Achchuthan Shanmugasundram Source Expert Review Green was added to HPD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HOXD13 Achchuthan Shanmugasundram Mode of pathogenicity for gene HOXD13 was changed from Other - please provide details in the comments to Other
Publications for gene: HOXD13 were updated from 12649808 to 12900906; 12414828; 17236141; 9758628; 12649808; 8817328; 19060004
DDG2P v3.11 HOXB1 Achchuthan Shanmugasundram Source Expert Review Green was added to HOXB1.
Mode of pathogenicity for gene HOXB1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HOXA1 Achchuthan Shanmugasundram Publications for gene: HOXA1 were updated from 18412118; 16155570 to 18412118; 16155570
DDG2P v3.11 HNRNPU Achchuthan Shanmugasundram Publications for gene: HNRNPU were updated from 23934111 to 23934111; 35138025
DDG2P v3.11 HNRNPK Achchuthan Shanmugasundram Publications for gene: HNRNPK were updated from 29904177; 30998304 to 30998304; 29904177
DDG2P v3.11 HNRNPH2 Achchuthan Shanmugasundram Source Expert Review Green was added to HNRNPH2.
Mode of pathogenicity for gene HNRNPH2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HNRNPH1 Achchuthan Shanmugasundram gene: HNRNPH1 was added
gene: HNRNPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPH1 were set to 29938792; 32335897
Phenotypes for gene: HNRNPH1 were set to HNRNPH1-related neurodevelopmental disorder
DDG2P v3.11 HNRNPD Achchuthan Shanmugasundram gene: HNRNPD was added
gene: HNRNPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPD were set to 33057194
Phenotypes for gene: HNRNPD were set to HNRNPD-related developmental disorder (monoallelic)
DDG2P v3.11 HNRNPA2B1 Achchuthan Shanmugasundram gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPA2B1 were set to 35484142
Phenotypes for gene: HNRNPA2B1 were set to Early-onset oculopharyngeal muscular dystrophy
DDG2P v3.11 HNF4A Achchuthan Shanmugasundram Publications for gene: HNF4A were updated from 24285859 to 8945471; 24285859
DDG2P v3.11 HNF1B Achchuthan Shanmugasundram Publications for gene: HNF1B were updated from 9398836; 11085914; 10484768; 15068978; 17440011; 11562418; 11317673; 10720943; 12675839; 15181075 to 11085914; 9398836; 12675839; 17440011; 15181075; 10484768; 10720943; 15068978; 11562418; 11317673
DDG2P v3.11 HMX1 Achchuthan Shanmugasundram Source Expert Review Green was added to HMX1.
Publications for gene: HMX1 were updated from 18423520 to 18423520; 25574057; 29140751
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HMGCS2 Achchuthan Shanmugasundram Mode of pathogenicity for gene HMGCS2 was changed from Other - please provide details in the comments to Other
Publications for gene: HMGCS2 were updated from 11479731; 9727719; 12647205; 11228257; 9337379 to 9337379; 12647205; 11228257; 9727719; 11479731
DDG2P v3.11 HMGCL Achchuthan Shanmugasundram Publications for gene: HMGCL were updated from 9463337; 8617516; 11129331 to 11129331; 9463337; 8617516
DDG2P v3.11 HMGB1 Achchuthan Shanmugasundram gene: HMGB1 was added
gene: HMGB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HMGB1 were set to 36755093; 34164801
Phenotypes for gene: HMGB1 were set to HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome; HMGB1-related intellectual disability
DDG2P v3.11 HK1 Achchuthan Shanmugasundram gene: HK1 was added
gene: HK1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HK1 were set to HK1-related developmental disorder (monoallelic)
DDG2P v3.11 HIVEP2 Achchuthan Shanmugasundram Publications for gene: HIVEP2 were updated from 26153216; 27003583 to 27003583; 26153216
DDG2P v3.11 HIST3H3 Achchuthan Shanmugasundram Mode of pathogenicity for gene HIST3H3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HIST1H4J Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4J.
Mode of pathogenicity for gene HIST1H4J was changed from Other - please provide details in the comments to Other
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 HIST1H4C Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H4C.
Mode of pathogenicity for gene HIST1H4C was changed from Other - please provide details in the comments to Other
Publications for gene: HIST1H4C were updated from 100000; 28920961 to 100000; 28920961
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HIST1H2AC Achchuthan Shanmugasundram gene: HIST1H2AC was added
gene: HIST1H2AC was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: HIST1H2AC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HIST1H2AC were set to HIST1H2AC-related developmental disorder (monoallelic)
DDG2P v3.11 HIST1H1E Achchuthan Shanmugasundram Source Expert Review Green was added to HIST1H1E.
Publications for gene: HIST1H1E were updated from 28475857 to 28475857; 31400068
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HIRA Achchuthan Shanmugasundram gene: HIRA was added
gene: HIRA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013
Phenotypes for gene: HIRA were set to HIRA-related neurodevelopmental disorder
DDG2P v3.11 HGSNAT Achchuthan Shanmugasundram Publications for gene: HGSNAT were updated from 18024218; 18518886; 16960811; 20825431; 17033958 to 18518886; 16960811; 20825431; 17033958; 18024218
DDG2P v3.11 HEXB Achchuthan Shanmugasundram Publications for gene: HEXB were updated from 571983; 9888387; 8045559; 2921040; 3014997; 2973515; 18758829; 7633435; 10724; 1531140 to 9888387; 8045559; 3014997; 571983; 2973515; 18758829; 1531140; 2921040; 7633435; 10724
DDG2P v3.11 HEXA Achchuthan Shanmugasundram Publications for gene: HEXA were updated from 1302612; 21937992; 1301958; 2934978; 2954459; 3362213; 9401004; 9603435; 1833974; 1825014; 15108204; 3754980; 1322637; 1301190; 2976595; 6959123; 1384323; 2961848; 9272736; 1483696; 2848800; 1837283; 2522679; 1827945; 1532289; 2140574; 14648242; 8757036; 8490625 to 2140574; 14648242; 9401004; 2848800; 6959123; 1483696; 21937992; 2934978; 1532289; 9272736; 1301190; 8757036; 2522679; 1322637; 2976595; 1384323; 15108204; 1301958; 1827945; 2961848; 1833974; 1837283; 3362213; 9603435; 8490625; 2954459; 1825014; 1302612; 3754980
DDG2P v3.11 HESX1 Achchuthan Shanmugasundram Source Expert Review Green was added to HESX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 HERC2 Achchuthan Shanmugasundram gene: HERC2 was added
gene: HERC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC2 were set to 32571899; 23243086; 30902390; 23065719
Phenotypes for gene: HERC2 were set to HERC2-related neurodevelopmental disorder, OMIM:615516
DDG2P v3.11 HERC1 Achchuthan Shanmugasundram gene: HERC1 was added
gene: HERC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 28323226; 27108999; 26153217; 26138117
Phenotypes for gene: HERC1 were set to MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011
DDG2P v3.11 HECW2 Achchuthan Shanmugasundram Mode of pathogenicity for gene HECW2 was changed from Other - please provide details in the comments to Other
Publications for gene: HECW2 were updated from 27334371; 27389779 to 35753050; 34321324; 27334371; 27389779
DDG2P v3.11 HDAC8 Achchuthan Shanmugasundram Publications for gene: HDAC8 were updated from 22885700 to 29279609; 25102094; 29991052; 22885700; 29519750; 26671848; 24403048
DDG2P v3.11 HDAC4 Achchuthan Shanmugasundram Publications for gene: HDAC4 were updated from 20691407 to 33537682; 20691407; 30848064
DDG2P v3.11 HCN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene HCN1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HCFC1 Achchuthan Shanmugasundram Publications for gene: HCFC1 were updated from 24011988 to 1870093; 23000143; 24011988
DDG2P v3.11 HAX1 Achchuthan Shanmugasundram Publications for gene: HAX1 were updated from 18337561; 19036076; 18611981; 17187068 to 18611981; 18337561; 19036076; 17187068
DDG2P v3.11 HARS Achchuthan Shanmugasundram Mode of pathogenicity for gene HARS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 HACE1 Achchuthan Shanmugasundram Publications for gene: HACE1 were updated from 26424145; 26437029 to 26437029; 26424145
DDG2P v3.11 HACD1 Achchuthan Shanmugasundram gene: HACD1 was added
gene: HACD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HACD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACD1 were set to 32426512; 33354762; 23933735
Phenotypes for gene: HACD1 were set to HACD1-related congenital myopathy
DDG2P v3.11 HAAO Achchuthan Shanmugasundram gene: HAAO was added
gene: HAAO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 33942433; 28792876
Phenotypes for gene: HAAO were set to NAD deficiency disorder
DDG2P v3.11 H3F3B Achchuthan Shanmugasundram gene: H3F3B was added
gene: H3F3B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: H3F3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: H3F3B were set to 33268356
Phenotypes for gene: H3F3B were set to H3F3B associated neurodevelopmental disorder
Mode of pathogenicity for gene: H3F3B was set to Other
DDG2P v3.11 H3F3A Achchuthan Shanmugasundram Mode of pathogenicity for gene H3F3A was changed from Other - please provide details in the comments to Other
Publications for gene: H3F3A were updated from 31942419; 33057194 to 31942419; 33057194; 33268356
DDG2P v3.11 GZF1 Achchuthan Shanmugasundram Source Expert Review Green was added to GZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GUSB Achchuthan Shanmugasundram Publications for gene: GUSB were updated from 12522561; 1702266; 9490302; 6811712; 7633414; 1833732; 7573038; 4265197 to 7633414; 6811712; 12522561; 9490302; 1702266; 7573038; 1833732; 4265197
DDG2P v3.11 GTPBP2 Achchuthan Shanmugasundram gene: GTPBP2 was added
gene: GTPBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 26675814; 30790272; 29449720
Phenotypes for gene: GTPBP2 were set to JABERI-ELAHI SYNDROME, OMIM:617988
DDG2P v3.11 GTF2IRD1 Achchuthan Shanmugasundram gene: GTF2IRD1 was added
gene: GTF2IRD1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GTF2IRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2IRD1 were set to 36308390
Phenotypes for gene: GTF2IRD1 were set to GTF2IRD1-related neurodevelopmental disorder
Mode of pathogenicity for gene: GTF2IRD1 was set to Other
DDG2P v3.11 GTF2E2 Achchuthan Shanmugasundram Source Expert Review Green was added to GTF2E2.
Mode of pathogenicity for gene GTF2E2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GSPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to GSPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GRM7 Achchuthan Shanmugasundram gene: GRM7 was added
gene: GRM7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 28097321; 27435318
Phenotypes for gene: GRM7 were set to GRM7-related neurodevelopmental disorder
DDG2P v3.11 GRM6 Achchuthan Shanmugasundram Publications for gene: GRM6 were updated from 15781871; 16249515; 17405131 to 16249515; 15781871; 17405131
DDG2P v3.11 GRM1 Achchuthan Shanmugasundram Source Expert Review Green was added to GRM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GRIN2D Achchuthan Shanmugasundram Source Expert Review Green was added to GRIN2D.
Mode of pathogenicity for gene GRIN2D was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GRIN2B Achchuthan Shanmugasundram Publications for gene: GRIN2B were updated from 23934111 to 24272827; 31085877; 23934111; 28377535; 23033978; 20890276; 23160955; 27605359; 23718928; 35393335; 30151416
DDG2P v3.11 GRIN2A Achchuthan Shanmugasundram Publications for gene: GRIN2A were updated from 23933818 to 23033978; 35983985; 20890276; 23933818
DDG2P v3.11 GRIN1 Achchuthan Shanmugasundram Mode of inheritance for gene GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIN1 were updated from 23934111; 27164704 to 27164704; 35393335; 34611970; 23934111; 26350515; 28051072
DDG2P v3.11 GRIK2 Achchuthan Shanmugasundram Mode of inheritance for gene GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRIK2 were updated from 17847003 to 17847003; 34375587
DDG2P v3.11 GRID2 Achchuthan Shanmugasundram gene: GRID2 was added
gene: GRID2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRID2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to 31183084; 25841024; 24078737; 23611888; 28856174
Phenotypes for gene: GRID2 were set to GRID2-related cerebellar ataxia, biallelic; GRID2-related cerebellar ataxia, monoallelic
DDG2P v3.11 GRIA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene GRIA4 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GRIA2 Achchuthan Shanmugasundram gene: GRIA2 was added
gene: GRIA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GRIA2 were set to GRIA2-related developmental disorder (monoallelic)
DDG2P v3.11 GRIA1 Achchuthan Shanmugasundram gene: GRIA1 was added
gene: GRIA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GRIA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIA1 were set to 23033978; 35675825
Phenotypes for gene: GRIA1 were set to GRIA1-related neurodevelopmental disorder
DDG2P v3.11 GRHL2 Achchuthan Shanmugasundram Source Expert Review Green was added to GRHL2.
Mode of pathogenicity for gene GRHL2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GREB1L Achchuthan Shanmugasundram gene: GREB1L was added
gene: GREB1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GREB1L were set to 29261186; 32378186; 32598191; 29220675; 29100090; 31424080; 29100091
Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM:617805
DDG2P v3.11 GPX4 Achchuthan Shanmugasundram Source Expert Review Green was added to GPX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GPHN Achchuthan Shanmugasundram gene: GPHN was added
gene: GPHN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPHN were set to 11095995; 22040219
Phenotypes for gene: GPHN were set to GPHN-related molybdenum cofactor deficiency, OMIM:615501
DDG2P v3.11 GPC6 Achchuthan Shanmugasundram Source Expert Review Green was added to GPC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GPC3 Achchuthan Shanmugasundram Publications for gene: GPC3 were updated from 16158429; 10814714; 18203194; 8589713; 9950367; 17850639 to 8589713; 18203194; 9950367; 17850639; 16158429; 10814714
DDG2P v3.11 GPAA1 Achchuthan Shanmugasundram Source Expert Review Green was added to GPAA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GOT2 Achchuthan Shanmugasundram Source Expert Review Green was added to GOT2.
Mode of pathogenicity for gene GOT2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GOLGA2 Achchuthan Shanmugasundram gene: GOLGA2 was added
gene: GOLGA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GOLGA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOLGA2 were set to 26742501; 34424553
Phenotypes for gene: GOLGA2 were set to GOLGA2-related myopathy, seizures and microcephaly
DDG2P v3.11 GNS Achchuthan Shanmugasundram Publications for gene: GNS were updated from 6450420; 17998446; 19650410; 3100754; 12624138 to 19650410; 12624138; 17998446; 6450420; 3100754
DDG2P v3.11 GNPTG Achchuthan Shanmugasundram Publications for gene: GNPTG were updated from 20034096; 19659762; 10712439; 19370764 to 10712439; 20034096; 19659762; 19370764; 34341521
DDG2P v3.11 GNPTAB Achchuthan Shanmugasundram Publications for gene: GNPTAB were updated from 16094673; 15633164; 16116615; 19197337 to 19197337; 16116615; 16465621; 16200072; 16094673; 15633164; 34341521
DDG2P v3.11 GNPAT Achchuthan Shanmugasundram Publications for gene: GNPAT were updated from 21990100; 9843043; 9536089; 1405476 to 9536089; 9843043; 1405476; 21990100
DDG2P v3.11 GNE Achchuthan Shanmugasundram gene: GNE was added
gene: GNE was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GNE were set to 11486897; 35121750; 11326336; 10356312; 29923088; 27142465; 10330343; 32053088
Phenotypes for gene: GNE were set to GNE-associated congenital myopathy; GNE-associated sialuria, OMIM:269921
Mode of pathogenicity for gene: GNE was set to Other
DDG2P v3.11 GNB5 Achchuthan Shanmugasundram Source Expert Review Green was added to GNB5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GNB2 Achchuthan Shanmugasundram gene: GNB2 was added
gene: GNB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNB2 were set to 28219978; 33057194; 34183358; 31698099
Phenotypes for gene: GNB2 were set to GNB2-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: GNB2 was set to Other
DDG2P v3.11 GNB1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GNB1 was changed from Other - please provide details in the comments to Other
Publications for gene: GNB1 were updated from 27108799; 30194818 to 30194818; 27108799
DDG2P v3.11 GNAS Achchuthan Shanmugasundram Publications for gene: GNAS were updated from 8072545; 8702665; 2122458; 11073544; 10487696; 17299070; 11095461; 1505964; 9328353 to 1944469; 10487696; 1505964; 11095461; 17299070; 2122458; 15592469; 9328353; 8702665; 11029463; 11073544; 15126527; 8072545; 18182455; 1594625
DDG2P v3.11 GNAQ Achchuthan Shanmugasundram Source Expert Review Green was added to GNAQ.
Mode of pathogenicity for gene GNAQ was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GNAI3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GNAI3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GNAI1 Achchuthan Shanmugasundram Publications for gene: GNAI1 were updated from 28135719 to 33473207; 28135719
DDG2P v3.11 GNA14 Achchuthan Shanmugasundram Source Expert Review Green was added to GNA14.
Mode of pathogenicity for gene GNA14 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GNA11 Achchuthan Shanmugasundram Source Expert Review Green was added to GNA11.
Mode of pathogenicity for gene GNA11 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GMPPA Achchuthan Shanmugasundram Publications for gene: GMPPA were updated from 24035193 to 24035193; 35665995
DDG2P v3.11 GMNN Achchuthan Shanmugasundram Source Expert Review Green was added to GMNN.
Mode of pathogenicity for gene GMNN was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GM2A Achchuthan Shanmugasundram Publications for gene: GM2A were updated from 8900233; 8244332; 10364519; 1915858 to 10364519; 8900233; 1915858; 8244332
DDG2P v3.11 GLUL Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUL was changed from Other - please provide details in the comments to Other
Publications for gene: GLUL were updated from 16267323; 21353613 to 21353613; 16267323
DDG2P v3.11 GLUD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GLUD1 was changed from Other - please provide details in the comments to Other
Publications for gene: GLUD1 were updated from 10636977; 11214910; 9571255 to 9571255; 11214910; 10636977
DDG2P v3.11 GLRB Achchuthan Shanmugasundram gene: GLRB was added
gene: GLRB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 24030948; 32911248; 23182654; 23184146; 21391991; 23238346; 11929858; 33323420
Phenotypes for gene: GLRB were set to GLRB-related hyperexplexia, biallelic, OMIM:614619; GLRB-related hyperexplexia, monoallelic
DDG2P v3.11 GLRA1 Achchuthan Shanmugasundram gene: GLRA1 was added
gene: GLRA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 24030948; 20631190; 9920650; 32319239; 30109271; 24970905; 28985719; 25036534; 32332682
Phenotypes for gene: GLRA1 were set to GLRA1-related hyperexplexia, biallelic, OMIM:149400; GLRA1-related hyperexplexia, monoallelic, OMIM:149400
DDG2P v3.11 GLMN Achchuthan Shanmugasundram Publications for gene: GLMN were updated from 11175297; 11845407 to 11845407; 11175297
DDG2P v3.11 GLIS2 Achchuthan Shanmugasundram Source Expert Review Green was added to GLIS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GLI3 Achchuthan Shanmugasundram Publications for gene: GLI3 were updated from 10945658; 9054938; 10441570 to 10945658; 9054938; 10441570
DDG2P v3.11 GLE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GLE1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GLDN Achchuthan Shanmugasundram Source Expert Review Green was added to GLDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GLDC Achchuthan Shanmugasundram Publications for gene: GLDC were updated from 445864; 15864413; 9600239; 10798358; 9621520; 11592811; 8005589; 15824356; 15236413; 1634607; 10873393; 15851735 to 10873393; 15864413; 15851735; 15824356; 1634607; 9621520; 10798358; 11592811; 15236413; 9600239; 445864; 8005589
DDG2P v3.11 GLB1 Achchuthan Shanmugasundram Publications for gene: GLB1 were updated from 1907800; 1909089; 8198123 to 1907800; 12644936; 1606711; 10841810; 1928092; 7586649; 1909089; 8199591; 8213816; 10737981; 8198123; 11511921
DDG2P v3.11 GJC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene GJC2 was changed from Other - please provide details in the comments to Other
Publications for gene: GJC2 were updated from 16969684; 15192806; 8733901; 18094336 to 20537300; 8733901; 18094336; 16969684; 19056803; 15192806
DDG2P v3.11 GJA8 Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA8 was changed from Other - please provide details in the comments to Other
Publications for gene: GJA8 were updated from 16604058; 10480374; 18006672; 11846744; 9497259; 14627691 to 16604058; 18006672; 14627691; 9497259; 10480374; 11846744
DDG2P v3.11 GJA3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GJA3 was changed from Other - please provide details in the comments to Other
Publications for gene: GJA3 were updated from 10205266; 22550389; 21681855; 22876138; 15448617; 10746562; 22312188 to 15448617; 21681855; 22312188; 10746562; 22550389; 22876138; 10205266
DDG2P v3.11 GJA1 Achchuthan Shanmugasundram Publications for gene: GJA1 were updated from 12457340; 4209752; 7815444; 15108203; 2309863; 16709485; 15551259; 17256797; 21670345 to 15108203; 2157843; 16816024; 14974090; 4209752; 2309863; 12457340; 15551259; 7815444; 21670345; 16709485; 17256797; 14981729; 11470490
DDG2P v3.11 GIGYF1 Achchuthan Shanmugasundram gene: GIGYF1 was added
gene: GIGYF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GIGYF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GIGYF1 were set to 33057194
Phenotypes for gene: GIGYF1 were set to GIGYF1-related developmental disorder (monoallelic)
DDG2P v3.11 GHR Achchuthan Shanmugasundram Publications for gene: GHR were updated from 9360529; 12679461; 15001620; 2813379; 17405847; 15536163; 2779634; 8488849; 11468686; 8626815; 9851797; 9661642; 2233903; 9467570 to 9851797; 11468686; 9467570; 12679461; 15536163; 2779634; 9661642; 8488849; 2813379; 8626815; 15001620; 9360529; 17405847; 2233903
DDG2P v3.11 GFAP Achchuthan Shanmugasundram Mode of pathogenicity for gene GFAP was changed from Other - please provide details in the comments to Other
Publications for gene: GFAP were updated from 14557587; 12975300; 11567214; 12034796; 11138011; 12447932 to 11138011; 11567214; 12447932; 12975300; 14557587; 12034796
DDG2P v3.11 GEMIN5 Achchuthan Shanmugasundram gene: GEMIN5 was added
gene: GEMIN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GEMIN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN5 were set to 33963192
Phenotypes for gene: GEMIN5 were set to GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333
DDG2P v3.11 GEMIN4 Achchuthan Shanmugasundram gene: GEMIN4 was added
gene: GEMIN4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 30237576; 35861185; 27878435; 25558065
Phenotypes for gene: GEMIN4 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913
Mode of pathogenicity for gene: GEMIN4 was set to Other
DDG2P v3.11 GDI1 Achchuthan Shanmugasundram Source Expert Review Red was added to GDI1.
Publications for gene: GDI1 were updated from to 22002931; 21736009; 9620768; 28863211
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 GDF6 Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF6 was changed from Other - please provide details in the comments to Other
Publications for gene: GDF6 were updated from 19129173 to 18425797; 21070663; 32737436; 25457163; 19129173
DDG2P v3.11 GDF5 Achchuthan Shanmugasundram Publications for gene: GDF5 were updated from 2703235 to 16222676; 11857750; 12124730; 16532400; 11846737; 16127465; 2703235; 12121354; 16892395; 12900894; 18283415; 9288098; 10080184; 18629880
DDG2P v3.11 GDF3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GDF3 was changed from Other - please provide details in the comments to Other
Publications for gene: GDF3 were updated from to 19864492; 29260090
DDG2P v3.11 GDF11 Achchuthan Shanmugasundram gene: GDF11 was added
gene: GDF11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GDF11 were set to 31215115; 34113007
Phenotypes for gene: GDF11 were set to GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122
DDG2P v3.11 GDF1 Achchuthan Shanmugasundram Source Expert Review Green was added to GDF1.
Mode of inheritance for gene GDF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDF1 were updated from to 32144877; 17924340; 20413652; 28991257; 33131162
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 GCSH Achchuthan Shanmugasundram Source Expert Review Green was added to GCSH.
Publications for gene: GCSH were updated from to 36190515
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 GCH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GCH1 was changed from Other - please provide details in the comments to Other
Publications for gene: GCH1 were updated from 11359069; 10732814; 11486899; 9576537; 9667588; 17111153; 10208576; 7874165 to 12552057; 9667588; 7874165; 10208576; 17111153; 9576537; 7730309; 11359069; 10732814; 11486899; 10987649
DDG2P v3.11 GCDH Achchuthan Shanmugasundram Mode of pathogenicity for gene GCDH was changed from Other - please provide details in the comments to Other
Publications for gene: GCDH were updated from 11174631; 8900227; 10699052; 7795610; 8900228 to 11174631; 8900228; 10699052; 7795610; 8900227
DDG2P v3.11 GBE1 Achchuthan Shanmugasundram gene: GBE1 was added
gene: GBE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBE1 were set to 33897756; 32455116; 27546458; 30345254; 31747834; 32374048; 33782433; 30228975; 30311141; 30303820
Phenotypes for gene: GBE1 were set to GBE1-associated Glycogen storage disease IV, OMIM:232500
DDG2P v3.11 GATAD2B Achchuthan Shanmugasundram Publications for gene: GATAD2B were updated from 23644463 to 23644463; 31949314
DDG2P v3.11 GATA6 Achchuthan Shanmugasundram Publications for gene: GATA6 were updated from 20631719 to 20631719; 20581743; 8071961; 22158542
DDG2P v3.11 GATA4 Achchuthan Shanmugasundram Publications for gene: GATA4 were updated from 17643447; 20659440; 12845333; 15810002; 20347099; 18055909 to 17643447; 18055909; 20659440; 12845333; 15810002; 20347099
DDG2P v3.11 GATA3 Achchuthan Shanmugasundram gene: GATA3 was added
gene: GATA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA3 were set to 25510779; 15830275; 30396722; 29026277; 26268891; 23291697; 26316437; 21834031; 27387476; 19723756; 23203342; 29593425; 29073906; 29025137; 25771973; 21242646; 21157112; 21120445; 11389161; 23186964; 23052618; 16509533; 25124981; 31885872; 19952462; 26777049; 19248180; 24434941; 15705923; 26514990; 26800885; 28566604; 19253381; 30534854; 10935639; 21399899; 28303854; 17309062
Phenotypes for gene: GATA3 were set to HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255
DDG2P v3.11 GATA2 Achchuthan Shanmugasundram Publications for gene: GATA2 were updated from 21892158; 20803646 to 21670465; 2543925; 21892158; 24227816; 22996659; 20803646; 21242295
DDG2P v3.11 GAS2L2 Achchuthan Shanmugasundram Source Expert Review Green was added to GAS2L2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GAN Achchuthan Shanmugasundram gene: GAN was added
gene: GAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAN were set to 11062483; 29876741; 20949505; 30246730; 19231187; 30532362
Phenotypes for gene: GAN were set to Giant axonal neuropathy 1
DDG2P v3.11 GAMT Achchuthan Shanmugasundram Publications for gene: GAMT were updated from 17101918; 15651030; 8651275 to 8651275; 15651030; 17101918
DDG2P v3.11 GALT Achchuthan Shanmugasundram Publications for gene: GALT were updated from 2011574; 10439960; 9012409; 9222760; 8869397; 1610789; 2233247; 1897530 to 9012409; 1610789; 2233247; 1897530; 10439960; 2011574; 8869397; 9222760
DDG2P v3.11 GALK1 Achchuthan Shanmugasundram Publications for gene: GALK1 were updated from 10790206; 7670469; 11231902; 10521295 to 10521295; 11231902; 10790206; 7670469
DDG2P v3.11 GALE Achchuthan Shanmugasundram Publications for gene: GALE were updated from 9538513; 9326324; 9973283 to 9326324; 9538513; 9973283
DDG2P v3.11 GALC Achchuthan Shanmugasundram Publications for gene: GALC were updated from 21070211; 8786069; 20886637; 8297359 to 8297359; 20886637; 8786069; 21070211
DDG2P v3.11 GAD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene GAD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 GABRG2 Achchuthan Shanmugasundram Source Expert Review Green was added to GABRG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GABRG1 Achchuthan Shanmugasundram gene: GABRG1 was added
gene: GABRG1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABRG1 were set to 36121006
Phenotypes for gene: GABRG1 were set to GABRG1-associated epileptic encephalopathy
Mode of pathogenicity for gene: GABRG1 was set to Other
DDG2P v3.11 GABRB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene GABRB3 was changed from Other - please provide details in the comments to Other
Publications for gene: GABRB3 were updated from 23934111; 27476654 to 27476654; 18514161; 23934111
DDG2P v3.11 GABRB2 Achchuthan Shanmugasundram Source Expert Review Green was added to GABRB2.
Mode of pathogenicity for gene GABRB2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GABRA1 Achchuthan Shanmugasundram Source Expert Review Green was added to GABRA1.
Publications for gene: GABRA1 were updated from 23934111 to 11992121; 23934111
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 GABBR2 Achchuthan Shanmugasundram Source Expert Review Green was added to GABBR2.
Mode of pathogenicity for gene GABBR2 was changed from Other - please provide details in the comments to Other
Publications for gene: GABBR2 were updated from 25262651 to 29100083; 29369404; 26740508; 25262651; 28856709
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 GABBR1 Achchuthan Shanmugasundram gene: GABBR1 was added
gene: GABBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GABBR1 were set to 36103875
Phenotypes for gene: GABBR1 were set to GABBR1-associated neurodevelopmental disorder
Mode of pathogenicity for gene: GABBR1 was set to Other
DDG2P v3.11 GAA Achchuthan Shanmugasundram Publications for gene: GAA were updated from 1652892; 8834250; 7881425; 17616415; 15668445; 9529346; 7945303; 1898413; 7881422; 3865697 to 9529346; 7881425; 15668445; 7945303; 7881422; 3865697; 1652892; 17616415; 1898413; 8834250
DDG2P v3.11 FZR1 Achchuthan Shanmugasundram gene: FZR1 was added
gene: FZR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FZR1 were set to 31318984; 34788397
Phenotypes for gene: FZR1 were set to FZR1-related intellectual disability and epilepsy
Mode of pathogenicity for gene: FZR1 was set to Other
DDG2P v3.11 FZD5 Achchuthan Shanmugasundram Source Expert Review Green was added to FZD5.
Mode of pathogenicity for gene FZD5 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FXR1 Achchuthan Shanmugasundram gene: FXR1 was added
gene: FXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FXR1 were set to 35393337; 30770808
Phenotypes for gene: FXR1 were set to FXR1-related congenital myopathy
DDG2P v3.11 FUT8 Achchuthan Shanmugasundram Source Expert Review Green was added to FUT8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FUK Achchuthan Shanmugasundram Source Expert Review Green was added to FUK.
Mode of pathogenicity for gene FUK was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FUCA1 Achchuthan Shanmugasundram Publications for gene: FUCA1 were updated from 1281988; 8401503; 2012122; 9762612; 2642067; 8097260 to 9762612; 2642067; 8401503; 2012122; 8097260; 1281988
DDG2P v3.11 FTSJ1 Achchuthan Shanmugasundram Publications for gene: FTSJ1 were updated from 10398246; 8288232; 15162322 to 10398246; 15162322; 8288232
DDG2P v3.11 FTO Achchuthan Shanmugasundram Mode of pathogenicity for gene FTO was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FTL Achchuthan Shanmugasundram Publications for gene: FTL were updated from 9414300; 10759702; 9292547; 7669675; 12200611; 9414313; 9226182; 7493028; 19176363; 11849230 to 11849230; 9414313; 9414300; 19176363; 7493028; 9226182; 7669675; 12200611; 9292547; 10759702
DDG2P v3.11 FRRS1L Achchuthan Shanmugasundram Source Expert Review Green was added to FRRS1L.
Publications for gene: FRRS1L were updated from 27239025; 27236917 to 27236917; 27239025
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FRMPD4 Achchuthan Shanmugasundram Source Expert Review Green was added to FRMPD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FRMD7 Achchuthan Shanmugasundram Source Expert Review Red was added to FRMD7.
Publications for gene: FRMD7 were updated from 18087240; 19072571; 21746984; 16240070; 17962394; 17013395 to 16240070; 17962394; 18087240; 17013395; 19072571; 21746984; 17397053; 25678693
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 FRMD5 Achchuthan Shanmugasundram gene: FRMD5 was added
gene: FRMD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FRMD5 were set to 36206744
Phenotypes for gene: FRMD5 were set to FRMD5-related developmental disorder
Mode of pathogenicity for gene: FRMD5 was set to Other
DDG2P v3.11 FREM1 Achchuthan Shanmugasundram Publications for gene: FREM1 were updated from 17352387; 11332973 to 11332973; 17352387
DDG2P v3.11 FRAS1 Achchuthan Shanmugasundram Publications for gene: FRAS1 were updated from 12766769; 15838507; 17163535; 18203166; 16894541; 18671281 to 15838507; 12766769; 18671281; 17163535; 18203166; 16894541
DDG2P v3.11 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 35871492; 35821753; 34694367
Phenotypes for gene: FRA10AC1 were set to FRA10AC1-related neurodevelopmental disorder
DDG2P v3.11 FOXRED1 Achchuthan Shanmugasundram Publications for gene: FOXRED1 were updated from 10944442; 20818383; 10080174; 23553477; 12616398; 11349233; 22499348; 10330338; 19185523; 20382551; 15824269; 16200211; 9463323; 11181577; 20858599; 15159508; 9837812; 17262856; 21203893 to 20818383; 11181577; 17262856; 15824269; 9463323; 19185523; 11349233; 10944442; 12616398; 20858599; 20382551; 15159508; 21203893; 10080174; 16200211; 22499348; 10330338; 9837812; 23553477
DDG2P v3.11 FOXP4 Achchuthan Shanmugasundram gene: FOXP4 was added
gene: FOXP4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXP4 were set to 33110267
Phenotypes for gene: FOXP4 were set to FOXP4-related Developmental Disorder
DDG2P v3.11 FOXP3 Achchuthan Shanmugasundram Publications for gene: FOXP3 were updated from 11137993; 17635943; 11120765; 11137992; 14671208 to 14671208; 17635943; 11137993; 11120765; 11137992
DDG2P v3.11 FOXP2 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FOXP1 Achchuthan Shanmugasundram Publications for gene: FOXP1 were updated from 20950788 to 24214399; 30092897; 20950788; 28735298; 25853299; 29090079; 29330474; 28884888
DDG2P v3.11 FOXL2 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXL2.
Publications for gene: FOXL2 were updated from 11468277; 21325395; 12400065; 12938087; 12567411; 17089161; 11175783; 12630957; 11776388; 12529855 to 12400065; 12938087; 11175783; 17089161; 12630957; 11468277; 11776388; 12567411; 12529855; 21325395
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FOXJ1 Achchuthan Shanmugasundram gene: FOXJ1 was added
gene: FOXJ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
DDG2P v3.11 FOXI3 Achchuthan Shanmugasundram gene: FOXI3 was added
gene: FOXI3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FOXI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FOXI3 were set to 36260083
Phenotypes for gene: FOXI3 were set to FOXI3-related microtia and craniofacial microsomia
Mode of pathogenicity for gene: FOXI3 was set to Other
DDG2P v3.11 FOXG1 Achchuthan Shanmugasundram Publications for gene: FOXG1 were updated from 19578037; 21441262; 19564653; 18571142 to 18571142; 21441262; 19564653; 19578037
DDG2P v3.11 FOXE3 Achchuthan Shanmugasundram Publications for gene: FOXE3 were updated from 6801987; 11159941; 3550563 to 29136273; 20361012; 20140963; 6801987; 22204637; 3550563; 11159941; 16826526
DDG2P v3.11 FOXE1 Achchuthan Shanmugasundram Mode of pathogenicity for gene FOXE1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FOXC2 Achchuthan Shanmugasundram Publications for gene: FOXC2 were updated from 12485195; 11499682; 14269895; 10417285; 11371511; 15523639; 12114478; 11078474 to 11078474; 18197197; 15523639; 14269895; 11499682; 12114478; 12485195; 10417285; 11371511
DDG2P v3.11 FOXC1 Achchuthan Shanmugasundram Publications for gene: FOXC1 were updated from 11007653; 19793056 to 9792859; 18498376; 9326342; 11170889; 9620769; 17210863; 10713890; 19793056; 11007653
DDG2P v3.11 FN1 Achchuthan Shanmugasundram Source Expert Review Green was added to FN1.
Mode of pathogenicity for gene FN1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FMN2 Achchuthan Shanmugasundram Source Expert Review Green was added to FMN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FLVCR2 Achchuthan Shanmugasundram Publications for gene: FLVCR2 were updated from 25677735; 20518025; 19635601; 20206334 to 19635601; 20518025; 25677735; 20206334
DDG2P v3.11 FLVCR1 Achchuthan Shanmugasundram Mode of pathogenicity for gene FLVCR1 was changed from Other - please provide details in the comments to Other
Publications for gene: FLVCR1 were updated from 21070897; 9409377; 21267618 to 21267618; 21070897; 9409377; 30656474
DDG2P v3.11 FLT4 Achchuthan Shanmugasundram Publications for gene: FLT4 were updated from 12960217; 10835628; 16965327; 10856194; 19289394; 16924388 to 33067626; 10835628; 12960217; 16924388; 19289394; 16965327; 10856194
DDG2P v3.11 FLNB Achchuthan Shanmugasundram Publications for gene: FLNB were updated from 14991055 to 18386804; 18257094; 14991055; 16801345
DDG2P v3.11 FLNA Achchuthan Shanmugasundram Publications for gene: FLNA were updated from 16299064; 20014127; 11532987; 11914408; 8290091; 9883725; 14988809 to 23934111; 16596676; 8644737; 20301567; 11914408; 16299064; 11532987; 9883725; 28498505; 10982965; 20014127; 23032111; 17632775; 17431908; 23037936; 18854860; 15654694; 14988809; 15940695; 12612583; 8290091
DDG2P v3.11 FLG Achchuthan Shanmugasundram Publications for gene: FLG were updated from 16444271; 17291859 to 17291859; 16444271
DDG2P v3.11 FKTN Achchuthan Shanmugasundram Publications for gene: FKTN were updated from 10545611; 9690476; 14627679; 21228398; 12601708; 19179078; 17878207 to 21228398; 17044012; 17878207; 19179078; 17036286; 12601708; 9690476; 10545611; 19342235; 14627679
DDG2P v3.11 FKRP Achchuthan Shanmugasundram Publications for gene: FKRP were updated from 12654965; 17336067; 14647208; 11071142; 11592034; 14652796; 11053680 to 11053680; 12654965; 15121789; 11592034; 14523375; 17336067; 11741828; 14647208; 14652796; 11071142; 12707439
DDG2P v3.11 FKBP10 Achchuthan Shanmugasundram gene: FKBP10 was added
gene: FKBP10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKBP10 were set to 20362275; 21567934; 35278031; 20839288
Phenotypes for gene: FKBP10 were set to BRUCK SYNDROME TYPE 1
DDG2P v3.11 FIG4 Achchuthan Shanmugasundram Source Expert Review Green was added to FIG4.
Publications for gene: FIG4 were updated from 2319578; 7496176; 23623387 to 17572665; 23623387; 7496176; 34899148; 30740813; 2319578
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FHL1 Achchuthan Shanmugasundram Publications for gene: FHL1 were updated from 19716112; 18179888; 19687455 to 35607917; 19716112; 19687455; 18179888
DDG2P v3.11 FH Achchuthan Shanmugasundram Publications for gene: FH were updated from to 8200987; 22069215
DDG2P v3.11 FGFR3 Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR3 was changed from Other - please provide details in the comments to Other
Publications for gene: FGFR3 were updated from 7773297; 19449430; 8845844; 7647778 to 28483234; 8845844; 7493034; 7913883; 17033969; 16912704; 16501574; 7758520; 11055896; 19449430; 9452043; 7670477; 7773297; 10215410; 7647778; 16411219; 8078586; 8589686; 27139183
DDG2P v3.11 FGFR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene FGFR2 was changed from Other - please provide details in the comments to Other
Publications for gene: FGFR2 were updated from 19610084; 8696350 to 7719344; 9677057; 7987400; 7874170; 9973282; 8696350; 19610084; 15523492; 7607643; 9152842; 8528214; 7581378; 7655462; 17621648; 9002682; 22038757
DDG2P v3.11 FGFR1 Achchuthan Shanmugasundram Publications for gene: FGFR1 were updated from 23812909 to 11807866; 15523615; 10394936; 7874169; 15625620; 26942290; 10690855; 7719345; 17235395; 8434615; 7422392; 16606836; 8841188; 23643382; 16882753; 17360555; 18596921; 23812909; 9150725; 16418210; 9002682; 12627230; 10945669; 9586546
DDG2P v3.11 FGF9 Achchuthan Shanmugasundram Source Expert Review Green was added to FGF9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FGF3 Achchuthan Shanmugasundram Publications for gene: FGF3 were updated from 18701883; 18435799; 17236138; 21480479 to 18435799; 21480479; 17236138; 18701883
DDG2P v3.11 FGF14 Achchuthan Shanmugasundram gene: FGF14 was added
gene: FGF14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FGF14 were set to 30607796; 25566820; 21600715
Phenotypes for gene: FGF14 were set to FGF14-related episodic ataxia
DDG2P v3.11 FGF13 Achchuthan Shanmugasundram gene: FGF13 was added
gene: FGF13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FGF13 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF13 were set to 33245860
Phenotypes for gene: FGF13 were set to FGF13-related neurodevelopmental disorder (X-linked dominant); FGF13-related neurodevelopmental disorder (hemizygous)
Mode of pathogenicity for gene: FGF13 was set to Other
DDG2P v3.11 FGF12 Achchuthan Shanmugasundram Mode of pathogenicity for gene FGF12 was changed from Other - please provide details in the comments to Other
Publications for gene: FGF12 were updated from 27830185; 27164707; 27872899 to 27164707; 27872899; 27830185
DDG2P v3.11 FGD1 Achchuthan Shanmugasundram Publications for gene: FGD1 were updated from 14560308; 20082460; 16353258; 11940089; 17152066; 11093277; 16688726; 15809997; 7954831; 10930571; 17847065 to 11093277; 14560308; 16688726; 20082460; 16353258; 7954831; 17152066; 10930571; 11940089; 15809997; 17847065
DDG2P v3.11 FEZF1 Achchuthan Shanmugasundram Source Expert Review Green was added to FEZF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FEM1C Achchuthan Shanmugasundram gene: FEM1C was added
gene: FEM1C was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FEM1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FEM1C were set to 36336956
Phenotypes for gene: FEM1C were set to FEM1C-related developmental disorder
Mode of pathogenicity for gene: FEM1C was set to Other
DDG2P v3.11 FBXW7 Achchuthan Shanmugasundram gene: FBXW7 was added
gene: FBXW7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW7 were set to 33057194
Phenotypes for gene: FBXW7 were set to FBXW7-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: FBXW7 was set to Other
DDG2P v3.11 FBXW11 Achchuthan Shanmugasundram Source Expert Review Green was added to FBXW11.
Mode of pathogenicity for gene FBXW11 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FBXO28 Achchuthan Shanmugasundram gene: FBXO28 was added
gene: FBXO28 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO28 were set to 30160831; 33280099
Phenotypes for gene: FBXO28 were set to FBX028-related developmental and epileptic encephalopathy with profound intellectual disability
Mode of pathogenicity for gene: FBXO28 was set to Other
DDG2P v3.11 FBXO11 Achchuthan Shanmugasundram Publications for gene: FBXO11 were updated from 27620904; 30057029 to 27620904; 30679813; 30057029
DDG2P v3.11 FBP1 Achchuthan Shanmugasundram Publications for gene: FBP1 were updated from 12126934; 7763253 to 7763253; 12126934
DDG2P v3.11 FBN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene FBN2 was changed from Other - please provide details in the comments to Other
Publications for gene: FBN2 were updated from 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527; 7493032; 33571691; 25558065; 28383543 to 9737771; 11281275; 20799338; 9106527; 33571691; 28383543; 7493032; 25558065; 9199560; 8900230; 10797416
DDG2P v3.11 FBN1 Achchuthan Shanmugasundram Mode of inheritance for gene FBN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FBN1 were updated from 8406497 to 1852208; 1631074; 31950671; 17366579; 9241263; 7611299; 1569206; 1301946; 11175294; 9101298; 9837823; 15032979; 17492313; 7762551; 23103230; 23897642; 21594992; 8136837; 7633409; 15287423; 12525539; 8504310; 20979188; 10766875; 16333834; 8281141; 23023332; 11702223; 17568394; 20082464; 27582083; 8101042; 8071963; 7911051; 8040326; 21594993; 10441597; 18412115; 8428751; 8406497; 8430317
DDG2P v3.11 FBLN1 Achchuthan Shanmugasundram Mode of pathogenicity for gene FBLN1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FASN Achchuthan Shanmugasundram Mode of pathogenicity for gene FASN was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FARS2 Achchuthan Shanmugasundram Publications for gene: FARS2 were updated from 29326872; 28043061; 27095821; 29126765; 27549011 to 29326872; 27549011; 29126765; 28043061; 27095821
DDG2P v3.11 FAR1 Achchuthan Shanmugasundram Publications for gene: FAR1 were updated from to 25439727
DDG2P v3.11 FANCM Achchuthan Shanmugasundram Source Expert Review Green was added to FANCM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FANCL Achchuthan Shanmugasundram Source Expert Review Green was added to FANCL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FANCG Achchuthan Shanmugasundram Publications for gene: FANCG were updated from 12552564; 10807541; 15657175; 9806548 to 15657175; 9806548; 12552564; 10807541
DDG2P v3.11 FANCF Achchuthan Shanmugasundram Publications for gene: FANCF were updated from 10615118; 9382107 to 26033879; 10615118; 9382107
DDG2P v3.11 FANCE Achchuthan Shanmugasundram Publications for gene: FANCE were updated from 10205272; 11001585; 9382107 to 10205272; 11001585; 9382107
DDG2P v3.11 FANCB Achchuthan Shanmugasundram Publications for gene: FANCB were updated from to 16679491
DDG2P v3.11 FANCA Achchuthan Shanmugasundram Publications for gene: FANCA were updated from 8896564; 10431244; 12447395; 11344308; 12827451; 15523645 to 12447395; 11344308; 12827451; 10431244; 8896564; 15523645
DDG2P v3.11 FAM58A Achchuthan Shanmugasundram Publications for gene: FAM58A were updated from 18297069; 8818947 to 18297069; 28322501; 8818947
DDG2P v3.11 FAM20C Achchuthan Shanmugasundram Publications for gene: FAM20C were updated from 19250384; 20825432; 17924334 to 20825432; 17924334; 19250384
DDG2P v3.11 FAM161A Achchuthan Shanmugasundram Publications for gene: FAM161A were updated from to 20705278; 26574802; 20705279; 10507729
DDG2P v3.11 FAM149B1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAM149B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 FAM126A Achchuthan Shanmugasundram Publications for gene: FAM126A were updated from 16951682; 17928815 to 17928815; 16951682
DDG2P v3.11 FAM111A Achchuthan Shanmugasundram Mode of pathogenicity for gene FAM111A was changed from Other - please provide details in the comments to Other
DDG2P v3.11 FAH Achchuthan Shanmugasundram Publications for gene: FAH were updated from 7977370; 11196105; 8829657; 7757089; 1401056; 8364576; 8162054; 8318997 to 7977370; 8829657; 1401056; 8318997; 8364576; 8162054; 11196105; 7757089
DDG2P v3.11 EZH2 Achchuthan Shanmugasundram Mode of pathogenicity for gene EZH2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EYA1 Achchuthan Shanmugasundram Publications for gene: EYA1 were updated from 16441263 to 9361030; 5365063; 16441263; 9020840; 10655545; 19206155
DDG2P v3.11 EXTL3 Achchuthan Shanmugasundram Source Expert Review Green was added to EXTL3.
Mode of pathogenicity for gene EXTL3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EXT2 Achchuthan Shanmugasundram Publications for gene: EXT2 were updated from to 9326317
DDG2P v3.11 EXT1 Achchuthan Shanmugasundram Publications for gene: EXT1 were updated from 8981950; 9326317; 15253765; 7550340 to 9326317; 7550340; 8981950; 15253765
DDG2P v3.11 EXPH5 Achchuthan Shanmugasundram Source Expert Review Green was added to EXPH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EXOSC9 Achchuthan Shanmugasundram Source Expert Review Green was added to EXOSC9.
Mode of inheritance for gene EXOSC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EXOSC3 Achchuthan Shanmugasundram Publications for gene: EXOSC3 were updated from to 34085948
DDG2P v3.11 EXOSC2 Achchuthan Shanmugasundram gene: EXOSC2 was added
gene: EXOSC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC2 were set to 36069504; 26843489
Phenotypes for gene: EXOSC2 were set to EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome
DDG2P v3.11 EVC Achchuthan Shanmugasundram Publications for gene: EVC were updated from 12468274; 7218275; 14217223; 7628126; 12571802; 10700184; 21815252 to 7628126; 21815252; 10700184; 14217223; 12468274; 7218275; 12571802
DDG2P v3.11 ETHE1 Achchuthan Shanmugasundram Publications for gene: ETHE1 were updated from 14732903; 20528888; 18593870 to 18593870; 14732903; 20528888
DDG2P v3.11 ETFA Achchuthan Shanmugasundram Publications for gene: ETFA were updated from 7912128; 17412732; 12815589; 19249206; 1430199; 1882842 to 17412732; 7912128; 1882842; 12815589; 1430199; 19249206
DDG2P v3.11 ESCO2 Achchuthan Shanmugasundram Publications for gene: ESCO2 were updated from 15821733; 495649 to 3740099; 15821733; 495649
DDG2P v3.11 ERLIN2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ERLIN2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ERF Achchuthan Shanmugasundram Publications for gene: ERF were updated from 27738187 to 23354439; 35852485; 27738187
DDG2P v3.11 ERCC8 Achchuthan Shanmugasundram Publications for gene: ERCC8 were updated from 7664335; 14661080; 15744458 to 14661080; 15744458; 7664335
DDG2P v3.11 ERCC6 Achchuthan Shanmugasundram Publications for gene: ERCC6 were updated from 7264357 to 20456449; 9443879; 7264357; 10739753; 18628313; 18446857; 10196384
DDG2P v3.11 ERCC5 Achchuthan Shanmugasundram Publications for gene: ERCC5 were updated from 11219864; 23255472; 9096355; 12060391; 7951246; 8818951; 11841555; 11228268 to 11228268; 12060391; 7951246; 9096355; 23255472; 11841555; 11219864; 8818951
DDG2P v3.11 ERCC4 Achchuthan Shanmugasundram Publications for gene: ERCC4 were updated from 8797827; 3372781 to 3372781; 23623389; 17183314; 23623386; 8797827
DDG2P v3.11 ERCC3 Achchuthan Shanmugasundram Publications for gene: ERCC3 were updated from 4811796; 16947863; 8408834 to 16947863; 4811796; 8408834
DDG2P v3.11 ERCC2 Achchuthan Shanmugasundram Publications for gene: ERCC2 were updated from 9758621; 15220921; 7920640; 8571952; 9195225; 9012405 to 9012405; 11709541; 15220921; 9101292; 7849702; 7920640; 9195225; 8571952; 11443545; 7585650; 9758621
DDG2P v3.11 ERCC1 Achchuthan Shanmugasundram Publications for gene: ERCC1 were updated from 17273966 to 23623389; 17273966
DDG2P v3.11 ERBB3 Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3.
Mode of pathogenicity for gene ERBB3 was changed from Other - please provide details in the comments to Other
Publications for gene: ERBB3 were updated from to 17701904
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EPRS Achchuthan Shanmugasundram Source Expert Review Green was added to EPRS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EPCAM Achchuthan Shanmugasundram gene: EPCAM was added
gene: EPCAM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPCAM were set to 21315192; 24048167; 24142340; 18572020; 20034091; 26684320; 27875355; 19820410
Phenotypes for gene: EPCAM were set to DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217
DDG2P v3.11 EPB41L1 Achchuthan Shanmugasundram Mode of pathogenicity for gene EPB41L1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EP300 Achchuthan Shanmugasundram Publications for gene: EP300 were updated from 17299436; 20014264; 19353645; 15706485 to 19353645; 17299436; 20014264; 15706485
DDG2P v3.11 ENTPD1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ENTPD1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ENPP1 Achchuthan Shanmugasundram Publications for gene: ENPP1 were updated from 19206175; 15940697; 22209248; 11159191; 12881724; 15605415 to 20137773; 12881724; 20137772; 15940697; 11159191; 19206175; 22209248; 15605415
DDG2P v3.11 EMG1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1.
Mode of pathogenicity for gene EMG1 was changed from Other - please provide details in the comments to Other
Publications for gene: EMG1 were updated from 26676230; 19463982; 25708872; 27798105 to 26676230; 27798105; 19463982; 25708872
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EMC10 Achchuthan Shanmugasundram gene: EMC10 was added
gene: EMC10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EMC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMC10 were set to 33531666
Phenotypes for gene: EMC10 were set to EMC10-related neurodevelopmental disorder
DDG2P v3.11 EMC1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMC1.
Publications for gene: EMC1 were updated from to 29271071; 26942288
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ELP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ELP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ELN Achchuthan Shanmugasundram Publications for gene: ELN were updated from 11735026; 10190538; 11175284; 19844261; 10190324; 9215670; 8541862; 8132745; 9215671 to 10190538; 8132745; 8541862; 21309044; 9215670; 11735026; 10190324; 19844261; 11175284; 23442826; 9215671
DDG2P v3.11 ELMO2 Achchuthan Shanmugasundram Source Expert Review Green was added to ELMO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ELFN1 Achchuthan Shanmugasundram gene: ELFN1 was added
gene: ELFN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ELFN1 were set to 34509675
Phenotypes for gene: ELFN1 were set to ELFN1-related intellectual disability and epilepsy
DDG2P v3.11 EIF5A Achchuthan Shanmugasundram gene: EIF5A was added
gene: EIF5A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF5A were set to 33547280
Phenotypes for gene: EIF5A were set to EIF5A-related craniofacial-neurodevelopmental disorder
DDG2P v3.11 EIF4A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene EIF4A3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EIF3F Achchuthan Shanmugasundram Source Expert Review Green was added to EIF3F.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EIF2S3 Achchuthan Shanmugasundram Source Expert Review Green was added to EIF2S3.
Publications for gene: EIF2S3 were updated from 27333055; 23063529 to 23063529; 27333055
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EIF2B5 Achchuthan Shanmugasundram gene: EIF2B5 was added
gene: EIF2B5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B5 were set to 28939701; 25457085; 25230711; 25089094; 25758335; 14572143; 15776425
Phenotypes for gene: EIF2B5 were set to EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896
DDG2P v3.11 EIF2B4 Achchuthan Shanmugasundram gene: EIF2B4 was added
gene: EIF2B4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B4 were set to 30073106; 26043506; 25089094; 31385086; 18539998; 14572143
Phenotypes for gene: EIF2B4 were set to EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896
DDG2P v3.11 EIF2AK3 Achchuthan Shanmugasundram Publications for gene: EIF2AK3 were updated from 16813601; 12960215; 10932183; 7551159 to 7551159; 12960215; 16813601; 10932183
DDG2P v3.11 EIF2AK2 Achchuthan Shanmugasundram gene: EIF2AK2 was added
gene: EIF2AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF2AK2 were set to 32197074
Phenotypes for gene: EIF2AK2 were set to EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
Mode of pathogenicity for gene: EIF2AK2 was set to Other
DDG2P v3.11 EIF2AK1 Achchuthan Shanmugasundram gene: EIF2AK1 was added
gene: EIF2AK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EIF2AK1 were set to 32197074
Phenotypes for gene: EIF2AK1 were set to EIF2AK1-associated Neurodevelopmental Syndrome
Mode of pathogenicity for gene: EIF2AK1 was set to Other
DDG2P v3.11 EHMT1 Achchuthan Shanmugasundram Publications for gene: EHMT1 were updated from 19264732; 28498556; 16826528 to 27123477; 23232695; 16826528; 28361100; 19264732; 28498556
DDG2P v3.11 EFTUD2 Achchuthan Shanmugasundram Publications for gene: EFTUD2 were updated from 22541558; 16760738; 19334086; 22305528; 23188108 to 27670155; 23879989; 22541558; 19334086; 28643921; 23188108; 25387991; 25735261; 31413053; 30343593; 16760738; 22305528; 23239648; 26507355; 24470203
DDG2P v3.11 EFNB1 Achchuthan Shanmugasundram Publications for gene: EFNB1 were updated from 16685650; 15166289; 15124102 to 15124102; 15166289; 16685650
DDG2P v3.11 EFEMP2 Achchuthan Shanmugasundram gene: EFEMP2 was added
gene: EFEMP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 29362193; 17937443; 30140196; 19664000; 28673110; 16685658; 22440127; 24276535; 23212998
Phenotypes for gene: EFEMP2 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437
DDG2P v3.11 EEF2 Achchuthan Shanmugasundram gene: EEF2 was added
gene: EEF2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EEF2 were set to EEF2-related developmental disorder (monoallelic)
DDG2P v3.11 EEF1A2 Achchuthan Shanmugasundram Source Expert Review Green was added to EEF1A2.
Mode of pathogenicity for gene EEF1A2 was changed from Other - please provide details in the comments to Other
Publications for gene: EEF1A2 were updated from 23647072 to 32196822; 23647072
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EED Achchuthan Shanmugasundram Source Expert Review Green was added to EED.
Mode of pathogenicity for gene EED was changed from Other - please provide details in the comments to Other
Publications for gene: EED were updated from 28475857; 27193220; 25787343; 27868325 to 27868325; 27193220; 25787343; 28475857
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EDNRB Achchuthan Shanmugasundram Publications for gene: EDNRB were updated from 7778600; 11891690 to 7778600; 11891690
DDG2P v3.11 EDNRA Achchuthan Shanmugasundram Mode of pathogenicity for gene EDNRA was changed from Other - please provide details in the comments to Other
DDG2P v3.11 EDN1 Achchuthan Shanmugasundram Source Expert Review Green was added to EDN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 EDEM3 Achchuthan Shanmugasundram gene: EDEM3 was added
gene: EDEM3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: EDEM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EDEM3 were set to 34143952
Phenotypes for gene: EDEM3 were set to EDEM3-related congenital disorder of glycosylation, OMIM:619493
DDG2P v3.11 EDAR Achchuthan Shanmugasundram Publications for gene: EDAR were updated from to 10431241; 16435307; 20979233
DDG2P v3.11 EDA Achchuthan Shanmugasundram Publications for gene: EDA were updated from 18657636; 17256800; 16583127 to 9683615; 17066260; 16583127; 9856856; 19921643; 12949972; 17256800; 19264582; 8696334; 9507389; 18657636
DDG2P v3.11 ECM1 Achchuthan Shanmugasundram gene: ECM1 was added
gene: ECM1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECM1 were set to 25529926; 25465029; 28434238
Phenotypes for gene: ECM1 were set to LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100
DDG2P v3.11 ECHS1 Achchuthan Shanmugasundram gene: ECHS1 was added
gene: ECHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ECHS1 were set to 25125611; 29575569; 26000322; 35856138; 25393721
Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
DDG2P v3.11 EBP Achchuthan Shanmugasundram Publications for gene: EBP were updated from 10942423; 10391218; 10391219; 11038443; 12503101 to 10942423; 10391218; 11038443; 10391219; 12503101
DDG2P v3.11 EBF3 Achchuthan Shanmugasundram Publications for gene: EBF3 were updated from 28017370; 28017372; 28017373 to 28017372; 28017370; 28017373
DDG2P v3.11 DYRK1A Achchuthan Shanmugasundram Publications for gene: DYRK1A were updated from 21294719; 23160955; 23099646 to 25641759; 25707398; 28053047; 21294719; 31263215; 25944381; 23160955; 31803247; 26922654; 25920557; 23099646; 29034068
DDG2P v3.11 DYNC2LI1 Achchuthan Shanmugasundram gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2LI1 were set to 26077881; 33030252; 26130459; 28857138
Phenotypes for gene: DYNC2LI1 were set to DYNC2LI1-related short-rib polydactyly, OMIM:617088
DDG2P v3.11 DYNC1I2 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DYNC1H1 Achchuthan Shanmugasundram Mode of pathogenicity for gene DYNC1H1 was changed from Other - please provide details in the comments to Other
Publications for gene: DYNC1H1 were updated from 22459677 to 22368300; 27066557; 28554554; 27331017; 30122514; 25484024; 25609763; 24307404; 29306600; 28193117; 22459677
DDG2P v3.11 DYM Achchuthan Shanmugasundram Publications for gene: DYM were updated from 12554689; 12491225; 16097008 to 16097008; 19005420; 12554689; 12491225
DDG2P v3.11 DVL3 Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DVL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene DVL1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DSTYK Achchuthan Shanmugasundram Mode of inheritance for gene DSTYK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.11 DSPP Achchuthan Shanmugasundram Publications for gene: DSPP were updated from 18456718; 11175790; 14758537; 11175779 to 18456718; 11175779; 11175790; 14758537
DDG2P v3.11 DSP Achchuthan Shanmugasundram gene: DSP was added
gene: DSP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DSP were set to 33057194
Phenotypes for gene: DSP were set to DSP-related developmental disorder
Mode of pathogenicity for gene: DSP was set to Other
DDG2P v3.11 DSG1 Achchuthan Shanmugasundram Source Expert Review Green was added to DSG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DSE Achchuthan Shanmugasundram Mode of pathogenicity for gene DSE was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DRC1 Achchuthan Shanmugasundram Source Expert Review Green was added to DRC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DPYSL5 Achchuthan Shanmugasundram gene: DPYSL5 was added
gene: DPYSL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to DPYSL5-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: DPYSL5 was set to Other
DDG2P v3.11 DPM3 Achchuthan Shanmugasundram Source Expert Review Green was added to DPM3.
Publications for gene: DPM3 were updated from 19576565 to 35932216; 19576565
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DPM1 Achchuthan Shanmugasundram Publications for gene: DPM1 were updated from 10642602; 10642597 to 10642597; 10642602
DDG2P v3.11 DPH5 Achchuthan Shanmugasundram gene: DPH5 was added
gene: DPH5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DPH5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPH5 were set to 35482014
Phenotypes for gene: DPH5 were set to DPH5-related neurodevelopmental disorder
DDG2P v3.11 DPF2 Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2.
Mode of pathogenicity for gene DPF2 was changed from Other - please provide details in the comments to Other
Publications for gene: DPF2 were updated from 29429572 to 29429572; 35607970
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DOLK Achchuthan Shanmugasundram Mode of pathogenicity for gene DOLK was changed from Other - please provide details in the comments to Other
Publications for gene: DOLK were updated from 17273964; 22242004 to 22242004; 17273964
DDG2P v3.11 DOHH Achchuthan Shanmugasundram gene: DOHH was added
gene: DOHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to 35858628
Phenotypes for gene: DOHH were set to DOHH-related neurodevelopmental disorder
DDG2P v3.11 DOCK7 Achchuthan Shanmugasundram Source Expert Review Green was added to DOCK7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DOCK6 Achchuthan Shanmugasundram Source Expert Review Green was added to DOCK6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNMT3A Achchuthan Shanmugasundram Publications for gene: DNMT3A were updated from 24614070; 28475857; 29900417 to 24614070; 29900417; 28475857
DDG2P v3.11 DNM1L Achchuthan Shanmugasundram gene: DNM1L was added
gene: DNM1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM1L were set to 26604000; 26992161; 30850373; 27328748; 30939602; 29877124; 31475481; 30801875; 31587467
Phenotypes for gene: DNM1L were set to DNM1L-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: DNM1L was set to Other
DDG2P v3.11 DNM1 Achchuthan Shanmugasundram Source Expert Review Green was added to DNM1.
Mode of inheritance for gene DNM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DNM1 were updated from to 36413998; 34172529; 25262651
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAJC12 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAJB4 Achchuthan Shanmugasundram gene: DNAJB4 was added
gene: DNAJB4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DNAJB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJB4 were set to 36264506
Phenotypes for gene: DNAJB4 were set to DNAJB4-related myopathy with early respiratory failure
DDG2P v3.11 DNAH9 Achchuthan Shanmugasundram Publications for gene: DNAH9 were updated from 30471717; 30471718 to 30471718; 30471717
DDG2P v3.11 DNAH5 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAH14 Achchuthan Shanmugasundram gene: DNAH14 was added
gene: DNAH14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DNAH14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH14 were set to 35438214
Phenotypes for gene: DNAH14 were set to DNAH14-related Neurodevelopmental disorder
DDG2P v3.11 DNAAF5 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAAF5.
Mode of pathogenicity for gene DNAAF5 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DNAAF3 Achchuthan Shanmugasundram Publications for gene: DNAAF3 were updated from 10745040; 22387996 to 22387996; 10745040
DDG2P v3.11 DMPK Achchuthan Shanmugasundram Mode of pathogenicity for gene DMPK was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DMP1 Achchuthan Shanmugasundram Publications for gene: DMP1 were updated from 17033625; 17033621 to 17033621; 17033625
DDG2P v3.11 DMD Achchuthan Shanmugasundram Publications for gene: DMD were updated from 8301652; 1383546; 15643612; 1549596; 1307253; 10909857; 8499922; 7981590; 2071150; 1513469; 8817332; 12794683; 7951253; 1601417; 8401539; 1301174; 8364587; 8281150; 7881286; 12673664; 7581396; 17024373; 8199594; 8401582 to 15643612; 7581396; 10909857; 7881286; 7981590; 17024373; 8361506; 8279470; 1513469; 1757094; 8199594; 8281150; 8301652; 12673664; 8401539; 12754707; 12632325; 8499922; 1301174; 12794683; 8817332; 1549596; 12522557; 1383546; 8401582; 1601417; 8364587; 2071150; 8789442; 1632439; 9683584; 9410897; 8401537; 7951253; 9170407; 1307253
DDG2P v3.11 DLX5 Achchuthan Shanmugasundram Mode of pathogenicity for gene DLX5 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DLL3 Achchuthan Shanmugasundram Publications for gene: DLL3 were updated from 10742114; 2805381; 12791036 to 2805381; 10742114; 12791036
DDG2P v3.11 DLG5 Achchuthan Shanmugasundram gene: DLG5 was added
gene: DLG5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DLG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816
Phenotypes for gene: DLG5 were set to DLG5-associated developmental disorder (biallelic); DLG5-associated developmental disorder (monoallelic)
DDG2P v3.11 DLG4 Achchuthan Shanmugasundram Source Expert Review Green was added to DLG4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DLD Achchuthan Shanmugasundram Publications for gene: DLD were updated from to 23290025; 8968745
DDG2P v3.11 DISP1 Achchuthan Shanmugasundram gene: DISP1 was added
gene: DISP1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DISP1 were set to HOLOPROSENCEPHALY, OMIM:609637
DDG2P v3.11 DIS3L2 Achchuthan Shanmugasundram Publications for gene: DIS3L2 were updated from 22306653; 6093533; 10508986 to 6093533; 10508986; 22306653
DDG2P v3.11 DIP2B Achchuthan Shanmugasundram Mode of pathogenicity for gene DIP2B was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHX37 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX37 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHX34 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX34 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHX30 Achchuthan Shanmugasundram Source Expert Review Green was added to DHX30.
Mode of pathogenicity for gene DHX30 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHX16 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHX16 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHTKD1 Achchuthan Shanmugasundram Source Expert Review Green was added to DHTKD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHRS3 Achchuthan Shanmugasundram Mode of pathogenicity for gene DHRS3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHPS Achchuthan Shanmugasundram Source Expert Review Green was added to DHPS.
Mode of pathogenicity for gene DHPS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHFR Achchuthan Shanmugasundram Mode of pathogenicity for gene DHFR was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DHDDS Achchuthan Shanmugasundram Source Expert Review Green was added to DHDDS.
Mode of pathogenicity for gene DHDDS was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DHCR7 Achchuthan Shanmugasundram Publications for gene: DHCR7 were updated from 9683613; 10677299; 15952211; 16044199; 10814720; 11175299; 9653161; 9714007; 11857552; 20635399; 12794707; 12949967; 9634533 to 20635399; 15952211; 10677299; 11175299; 16044199; 12949967; 9653161; 12794707; 11857552; 10814720; 26969503; 9634533; 9714007; 9683613
DDG2P v3.11 DEPDC5 Achchuthan Shanmugasundram Publications for gene: DEPDC5 were updated from 9851433; 14510823; 23542701; 15329069; 10825362; 10577924 to 10577924; 14510823; 23542701; 9851433; 15329069; 10825362
DDG2P v3.11 DENND5A Achchuthan Shanmugasundram Source Expert Review Green was added to DENND5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DEGS1 Achchuthan Shanmugasundram Publications for gene: DEGS1 were updated from 31186544; 30620337 to 30620337; 31186544
DDG2P v3.11 DEAF1 Achchuthan Shanmugasundram Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DEAF1 were updated from 26834045; 26048982 to 24726472; 26048982; 26834045; 21076407
DDG2P v3.11 DDX6 Achchuthan Shanmugasundram Source Expert Review Green was added to DDX6.
Mode of pathogenicity for gene DDX6 was changed from Other - please provide details in the comments to Other
Publications for gene: DDX6 were updated from to 31422817
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DDX59 Achchuthan Shanmugasundram Source Expert Review Green was added to DDX59.
Mode of pathogenicity for gene DDX59 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DDX58 Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX58 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DDX54 Achchuthan Shanmugasundram Mode of pathogenicity for gene DDX54 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DDX3X Achchuthan Shanmugasundram Publications for gene: DDX3X were updated from 25533962 to 30734472; 25533962; 28371085; 30349862; 29490693; 26235985
DDG2P v3.11 DDX23 Achchuthan Shanmugasundram gene: DDX23 was added
gene: DDX23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDX23 were set to 33057194
Phenotypes for gene: DDX23 were set to DDX23-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: DDX23 was set to Other
DDG2P v3.11 DDX11 Achchuthan Shanmugasundram Publications for gene: DDX11 were updated from 23033317; 20137776 to 23033317; 20137776
DDG2P v3.11 DDR2 Achchuthan Shanmugasundram Mode of pathogenicity for gene DDR2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DDHD1 Achchuthan Shanmugasundram Publications for gene: DDHD1 were updated from 15786464; 23176821 to 23176821; 15786464
DDG2P v3.11 DDB2 Achchuthan Shanmugasundram Publications for gene: DDB2 were updated from 10469312; 12812979; 8798680 to 10469312; 8798680; 12812979
DDG2P v3.11 DDB1 Achchuthan Shanmugasundram gene: DDB1 was added
gene: DDB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDB1 were set to 33743206
Phenotypes for gene: DDB1 were set to DDB1-associated neurodevelopmental syndrome
Mode of pathogenicity for gene: DDB1 was set to Other
DDG2P v3.11 DCX Achchuthan Shanmugasundram Publications for gene: DCX were updated from 11468322; 12552055; 10441340; 9489699; 9489700 to 10441340; 9489700; 9489699; 12552055; 11468322
DDG2P v3.11 DCDC2 Achchuthan Shanmugasundram Source Expert Review Green was added to DCDC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DCC Achchuthan Shanmugasundram Source Expert Review Green was added to DCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 DAW1 Achchuthan Shanmugasundram gene: DAW1 was added
gene: DAW1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124
Phenotypes for gene: DAW1 were set to DAW1-associated ciliopathy
DDG2P v3.11 DARS Achchuthan Shanmugasundram Mode of pathogenicity for gene DARS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DAG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene DAG1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 DACT1 Achchuthan Shanmugasundram Mode of inheritance for gene DACT1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene DACT1 was changed from to Other
Publications for gene: DACT1 were updated from 28054444; 22610794 to 22610794; 36066768; 28054444
DDG2P v3.11 CYP27A1 Achchuthan Shanmugasundram Source Expert Review Green was added to CYP27A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CYP1B1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CYP1B1 was changed from Other - please provide details in the comments to Other
Publications for gene: CYP1B1 were updated from 9463332; 10227395; 9497261; 15342693; 19643970; 12372064; 19807744; 9097971 to 9463332; 19643970; 15342693; 19807744; 9497261; 10227395; 9097971; 27777502; 12372064
DDG2P v3.11 CYFIP2 Achchuthan Shanmugasundram gene: CYFIP2 was added
gene: CYFIP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CYFIP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CYFIP2 were set to 29534297; 31689829; 30664714; 29667327
Phenotypes for gene: CYFIP2 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468
Mode of pathogenicity for gene: CYFIP2 was set to Other
DDG2P v3.11 CYC1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CYC1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CYB5R3 Achchuthan Shanmugasundram Source Expert Review Green was added to CYB5R3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CWC27 Achchuthan Shanmugasundram Publications for gene: CWC27 were updated from 28285769 to 36718996; 28285769
DDG2P v3.11 CUX2 Achchuthan Shanmugasundram Source Expert Review Green was added to CUX2.
Mode of pathogenicity for gene CUX2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CUX1 Achchuthan Shanmugasundram gene: CUX1 was added
gene: CUX1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUX1 were set to 30014507
Phenotypes for gene: CUX1 were set to GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
DDG2P v3.11 CUL7 Achchuthan Shanmugasundram Publications for gene: CUL7 were updated from 17675530; 16142236; 19225462 to 19225462; 17675530; 16142236
DDG2P v3.11 CUL3 Achchuthan Shanmugasundram Source Expert Review Green was added to CUL3.
Mode of inheritance for gene CUL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUL3 were updated from 27824329 to 31696658; 32341456; 27824329; 33097317
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CTU2 Achchuthan Shanmugasundram gene: CTU2 was added
gene: CTU2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTU2 were set to 31301155
Phenotypes for gene: CTU2 were set to MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142
DDG2P v3.11 CTSK Achchuthan Shanmugasundram Publications for gene: CTSK were updated from 10878663; 8703060; 10491211 to 10491211; 10878663; 8703060
DDG2P v3.11 CTSD Achchuthan Shanmugasundram Publications for gene: CTSD were updated from 16670177; 16685649 to 16685649; 16670177
DDG2P v3.11 CTSA Achchuthan Shanmugasundram Publications for gene: CTSA were updated from 8968752; 10944848; 8514852; 9603439; 1756715 to 8968752; 9603439; 1756715; 10944848; 8514852
DDG2P v3.11 CTNS Achchuthan Shanmugasundram Publications for gene: CTNS were updated from 19863563; 10556299; 10444339 to 10673275; 10625078; 12442267; 9792862; 11505338; 10556299; 9537412; 11565547; 10444339; 19863563
DDG2P v3.11 CTNND2 Achchuthan Shanmugasundram gene: CTNND2 was added
gene: CTNND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTNND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTNND2 were set to 25807484; 25839933
Phenotypes for gene: CTNND2 were set to CTNND2-related neurodevelopmental disorder
DDG2P v3.11 CTNND1 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNND1.
Publications for gene: CTNND1 were updated from 100000; 29348693; 28301459 to 100000; 32196547; 29348693; 28301459
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CTNNB1 Achchuthan Shanmugasundram Publications for gene: CTNNB1 were updated from to 35880249; 30929091; 28514307; 24614104; 27915094; 26968164; 25326669
DDG2P v3.11 CTNNA2 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CTBP1 Achchuthan Shanmugasundram gene: CTBP1 was added
gene: CTBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CTBP1 were set to CTBP1-related developmental disorder (monoallelic)
DDG2P v3.11 CSTB Achchuthan Shanmugasundram Publications for gene: CSTB were updated from 9012407; 15329070; 9342192; 8596935 to 9012407; 8596935; 9342192; 15329070
DDG2P v3.11 CSTA Achchuthan Shanmugasundram Source Expert Review Green was added to CSTA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CSNK2B Achchuthan Shanmugasundram gene: CSNK2B was added
gene: CSNK2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSNK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSNK2B were set to CSNK2B-related developmental disorder (monoallelic)
DDG2P v3.11 CSNK2A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK2A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CSNK1G1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CSNK1G1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CSF1R Achchuthan Shanmugasundram Publications for gene: CSF1R were updated from 30982608; 30982609 to 30982608; 30982609
DDG2P v3.11 CSDE1 Achchuthan Shanmugasundram gene: CSDE1 was added
gene: CSDE1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CSDE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSDE1 were set to 33867523; 31579823
Phenotypes for gene: CSDE1 were set to CSDE1-associated intellectual disability and autism
DDG2P v3.11 CRYGD Achchuthan Shanmugasundram Source Expert Review Red was added to CRYGD.
Publications for gene: CRYGD were updated from 9927684 to 9927684; 17564961; 12011157; 10915766; 10521291
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 CRYGC Achchuthan Shanmugasundram Publications for gene: CRYGC were updated from 12011157; 10521291; 10914683 to 10521291; 10914683; 12011157
DDG2P v3.11 CRYBB3 Achchuthan Shanmugasundram Mode of pathogenicity for gene CRYBB3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CRYBB2 Achchuthan Shanmugasundram Publications for gene: CRYBB2 were updated from 11424921; 8812489 to 8812489; 11424921
DDG2P v3.11 CRYBB1 Achchuthan Shanmugasundram Mode of inheritance for gene CRYBB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CRYBB1 were updated from 12360425; 17460281 to 17460281; 12360425
DDG2P v3.11 CRYBA4 Achchuthan Shanmugasundram Source Expert Review Red was added to CRYBA4.
Mode of pathogenicity for gene CRYBA4 was changed from Other - please provide details in the comments to Other
Publications for gene: CRYBA4 were updated from 16960806 to 16960806; 15452067; 20577656
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 CRYAB Achchuthan Shanmugasundram Publications for gene: CRYAB were updated from 21337604 to 11577372; 21337604
DDG2P v3.11 CRYAA Achchuthan Shanmugasundram Publications for gene: CRYAA were updated from 19182255 to 11006246; 19182255
DDG2P v3.11 CRX Achchuthan Shanmugasundram Publications for gene: CRX were updated from to 9792858; 9390563; 15531334; 17320181; 25270190; 9537410; 9427255; 9931337; 12208271
DDG2P v3.11 CRLS1 Achchuthan Shanmugasundram gene: CRLS1 was added
gene: CRLS1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to CRLS1-related mitochondrial disorder
Mode of pathogenicity for gene: CRLS1 was set to Other
DDG2P v3.11 CRKL Achchuthan Shanmugasundram Mode of pathogenicity for gene CRKL was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CRELD1 Achchuthan Shanmugasundram Source Expert Review Green was added to CRELD1.
Mode of pathogenicity for gene CRELD1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CREBBP Achchuthan Shanmugasundram Publications for gene: CREBBP were updated from 27311832 to 12114483; 12566391; 30737887; 20684013; 29460469; 27311832; 7630403; 11331617
DDG2P v3.11 CRB1 Achchuthan Shanmugasundram Publications for gene: CRB1 were updated from 11389483; 16543197; 11231775 to 16543197; 19140180; 11231775; 11389483; 10508521
DDG2P v3.11 CRADD Achchuthan Shanmugasundram Source Expert Review Red was added to CRADD.
Mode of pathogenicity for gene CRADD was changed from Other - please provide details in the comments to Other
Publications for gene: CRADD were updated from 27773430 to 27773430; 22279524
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CPSF3 Achchuthan Shanmugasundram gene: CPSF3 was added
gene: CPSF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CPSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CPSF3 were set to 35121750
Phenotypes for gene: CPSF3 were set to CPSF3-associated neurodevelopmental disorder with seizures and microcephaly
Mode of pathogenicity for gene: CPSF3 was set to Other
DDG2P v3.11 CPS1 Achchuthan Shanmugasundram Publications for gene: CPS1 were updated from 8486760; 11474210; 9711878; 17310273; 19793055 to 9711878; 19793055; 11474210; 8486760; 17310273
DDG2P v3.11 CPAMD8 Achchuthan Shanmugasundram Source Expert Review Green was added to CPAMD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COX7B Achchuthan Shanmugasundram Publications for gene: COX7B were updated from 23122588; 9747372 to 9747372; 23122588
DDG2P v3.11 COX16 Achchuthan Shanmugasundram gene: COX16 was added
gene: COX16 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to 33169484
Phenotypes for gene: COX16 were set to COX16-related Developmental Disorder
DDG2P v3.11 COX10 Achchuthan Shanmugasundram Mode of pathogenicity for gene COX10 was changed from Other - please provide details in the comments to Other
Publications for gene: COX10 were updated from 18499082; 10767350; 11013136; 10647889; 10545952 to 10767350; 15455402; 11013136; 18499082; 10545952; 12928484; 10647889
DDG2P v3.11 COQ5 Achchuthan Shanmugasundram Mode of pathogenicity for gene COQ5 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COQ4 Achchuthan Shanmugasundram Source Expert Review Green was added to COQ4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COPB2 Achchuthan Shanmugasundram gene: COPB2 was added
gene: COPB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COPB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COPB2 were set to 34450031; 29036432
Phenotypes for gene: COPB2 were set to COPB2-associated developmental delay and microcephaly, OMIM:617800; COPB2-related developmental delay and osteopenia
DDG2P v3.11 COPB1 Achchuthan Shanmugasundram gene: COPB1 was added
gene: COPB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: COPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COPB1 were set to 33632302
Phenotypes for gene: COPB1 were set to COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly
Mode of pathogenicity for gene: COPB1 was set to Other
DDG2P v3.11 COMP Achchuthan Shanmugasundram Source Expert Review Red was added to COMP.
Mode of pathogenicity for gene COMP was changed from Other - please provide details in the comments to Other
Publications for gene: COMP were updated from 9463320; 7670472; 9887340; 12483304; 9021009 to 9021009; 9463320; 12483304; 7670472; 9887340
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 COLEC11 Achchuthan Shanmugasundram Publications for gene: COLEC11 were updated from 8933348; 21258343; 2569826 to 2569826; 21258343; 8933348
DDG2P v3.11 COLEC10 Achchuthan Shanmugasundram Source Expert Review Green was added to COLEC10.
Publications for gene: COLEC10 were updated from 28301481 to 28301481; 35943032
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COL9A3 Achchuthan Shanmugasundram Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL9A3 were updated from 24273071 to 15551337; 30450842; 10655510; 24273071; 10090888; 31090205
DDG2P v3.11 COL9A2 Achchuthan Shanmugasundram Publications for gene: COL9A2 were updated from 10364514; 8528240; 12244547 to 8528240; 21671392; 10364514; 31090205; 12244547
DDG2P v3.11 COL9A1 Achchuthan Shanmugasundram Publications for gene: COL9A1 were updated from 11565064 to 16909383; 11565064
DDG2P v3.11 COL6A2 Achchuthan Shanmugasundram gene: COL6A2 was added
gene: COL6A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL6A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL6A2 were set to 34167565; 15563506; 20106987; 11381124; 16075202; 19564581; 12218063
Phenotypes for gene: COL6A2 were set to COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090; COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090
DDG2P v3.11 COL6A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL6A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL4A4 Achchuthan Shanmugasundram Publications for gene: COL4A4 were updated from to 7987396; 9269635
DDG2P v3.11 COL4A3BP Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A3BP was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL4A3 Achchuthan Shanmugasundram Publications for gene: COL4A3 were updated from 11134255; 9269635 to 9792860; 7633417; 7987301; 11134255; 9269635; 7987396
DDG2P v3.11 COL4A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL4A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 COL2A1 Achchuthan Shanmugasundram Publications for gene: COL2A1 were updated from 8325895; 2339128; 8423604; 2543071 to 14729840; 2339128; 3195588; 8723097; 1429602; 8325895; 15054848; 7849719; 7829510; 26443184; 2543071; 16088915; 8486375; 26626311; 8423604; 15671297; 26358419; 7757081; 7550321; 16752401; 1374906; 17721977; 7981752; 25060605; 7874117; 15316962
DDG2P v3.11 COL27A1 Achchuthan Shanmugasundram gene: COL27A1 was added
gene: COL27A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 28322503; 28276056; 31903681; 24986830
Phenotypes for gene: COL27A1 were set to Steel Syndrome
DDG2P v3.11 COL25A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COL1A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL1A1 was changed from Other - please provide details in the comments to Other
Publications for gene: COL1A1 were updated from 2339700; 3403550; 2298750; 8097422; 8364588; 7881420; 2500431; 3108247; 1874719; 21834035; 12538651; 1864604; 2794057; 2037280; 8950680; 7816518; 1613761; 2309707; 3667599; 2913053; 8100209 to 8097422; 2339700; 12538651; 8950680; 15728585; 8364588; 1864604; 15024692; 2037280; 7816518; 2794057; 1770532; 8910493; 3403550; 3108247; 1737847; 3082886; 2913053; 9295084; 1988452; 8100209; 8723681; 7881420; 2500431; 8757037; 2309707; 2511192; 1874719; 9067755; 34272483; 8456809; 15864348; 8786074; 3667599; 1634225; 7789952; 11286507; 21834035; 18409203; 2298750; 2295701; 1613761; 8408653
DDG2P v3.11 COL18A1 Achchuthan Shanmugasundram Publications for gene: COL18A1 were updated from 10942434; 30007336; 19160445; 18484314; 12415512; 19160445; 28602933; 28950998 to 19390655; 18484314; 10942434; 28950998; 19160445; 27259167; 12415512; 25456301; 30007336; 28602933
DDG2P v3.11 COL13A1 Achchuthan Shanmugasundram Source Expert Review Green was added to COL13A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COL11A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL11A2 was changed from Other - please provide details in the comments to Other
Publications for gene: COL11A2 were updated from 15558753; 14234962 to 16033917; 10581026; 16189708; 15558753; 16637051; 7833911; 15372529; 10677296; 7859284; 9506662; 14234962
DDG2P v3.11 COL11A1 Achchuthan Shanmugasundram Publications for gene: COL11A1 were updated from 10573014; 8872475 to 10573014; 17236192; 27081569; 25091507; 25073711; 8872475; 21035103; 9529347; 10486316; 22499343
DDG2P v3.11 COL10A1 Achchuthan Shanmugasundram Mode of pathogenicity for gene COL10A1 was changed from Other - please provide details in the comments to Other
Publications for gene: COL10A1 were updated from 10991694; 7749409; 9852679; 9468540; 9525992; 7607655; 8012364; 8304336; 9067753; 8004099; 8986632; 12554676; 8554571; 17403716 to 7607655; 9852679; 17403716; 12554676; 8554571; 8012364; 9468540; 8986632; 9067753; 8004099; 10991694; 8304336; 9525992; 7749409
DDG2P v3.11 COG5 Achchuthan Shanmugasundram Source Expert Review Green was added to COG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 COG4 Achchuthan Shanmugasundram Mode of inheritance for gene COG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG4 were updated from to 30290151
DDG2P v3.11 COASY Achchuthan Shanmugasundram Publications for gene: COASY were updated from 11980892; 25778941; 24360804; 27021474; 28489334; 30089828; 36495139 to 25778941; 27021474; 28489334; 11980892; 35499143; 36495139; 24360804; 30089828
DDG2P v3.11 CNTNAP2 Achchuthan Shanmugasundram Publications for gene: CNTNAP2 were updated from 19896112; 16571880; 11568923 to 11568923; 19896112; 16571880
DDG2P v3.11 CNTNAP1 Achchuthan Shanmugasundram Source Expert Review Green was added to CNTNAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CNPY3 Achchuthan Shanmugasundram Source Expert Review Green was added to CNPY3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CNOT1 Achchuthan Shanmugasundram Source Expert Review Green was added to CNOT1.
Mode of pathogenicity for gene CNOT1 was changed from Other - please provide details in the comments to Other
Publications for gene: CNOT1 were updated from 31006510; 31006513 to 31006513; 32553196; 31006510
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CNNM2 Achchuthan Shanmugasundram gene: CNNM2 was added
gene: CNNM2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CNNM2 were set to 21397062; 30026055; 24699222
Phenotypes for gene: CNNM2 were set to CNNM2-related neurodevelopmental disorder with hypomagnesemia; autosomal recessive form
DDG2P v3.11 CNKSR2 Achchuthan Shanmugasundram Source Expert Review Green was added to CNKSR2.
Publications for gene: CNKSR2 were updated from 22511892; 25644381 to 25644381; 22511892
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLTC Achchuthan Shanmugasundram Source Expert Review Green was added to CLTC.
Publications for gene: CLTC were updated from 29100083 to 26822784; 29100083
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLPP Achchuthan Shanmugasundram Source Expert Review Green was added to CLPP.
Mode of pathogenicity for gene CLPP was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLPB Achchuthan Shanmugasundram Publications for gene: CLPB were updated from 25597510 to 25597510; 28687938
DDG2P v3.11 CLP1 Achchuthan Shanmugasundram Source Expert Review Green was added to CLP1.
Mode of pathogenicity for gene CLP1 was changed from Other - please provide details in the comments to Other
Publications for gene: CLP1 were updated from 24766810; 24766809; 29307788 to 24766809; 24766810; 29307788
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLN8 Achchuthan Shanmugasundram Publications for gene: CLN8 were updated from 10508524 to 16570191; 19431184; 10508524
DDG2P v3.11 CLN6 Achchuthan Shanmugasundram Publications for gene: CLN6 were updated from to 11727201; 15996215; 11791207
DDG2P v3.11 CLN5 Achchuthan Shanmugasundram Publications for gene: CLN5 were updated from 18684116; 20157158; 15728307; 9662406 to 9662406; 18684116; 15728307; 20157158
DDG2P v3.11 CLN3 Achchuthan Shanmugasundram Publications for gene: CLN3 were updated from 7887420; 7553855; 19489875; 9450775 to 7887420; 9450775; 7553855; 19489875
DDG2P v3.11 CLMP Achchuthan Shanmugasundram Source Expert Review Green was added to CLMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLIC2 Achchuthan Shanmugasundram Mode of pathogenicity for gene CLIC2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CLDN5 Achchuthan Shanmugasundram gene: CLDN5 was added
gene: CLDN5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CLDN5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLDN5 were set to 35714222
Phenotypes for gene: CLDN5 were set to CLDN5-related neurodevelopmental disorder
Mode of pathogenicity for gene: CLDN5 was set to Other
DDG2P v3.11 CLDN19 Achchuthan Shanmugasundram Mode of pathogenicity for gene CLDN19 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CLCNKB Achchuthan Shanmugasundram Source Expert Review Green was added to CLCNKB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLCN7 Achchuthan Shanmugasundram Publications for gene: CLCN7 were updated from 17033731; 11207362; 11741829 to 17033731; 11741829; 11207362
DDG2P v3.11 CLCN6 Achchuthan Shanmugasundram gene: CLCN6 was added
gene: CLCN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN6 were set to 33217309; 28074849; 29667327
Phenotypes for gene: CLCN6 were set to CLCN6-related Developmental Disorder
Mode of pathogenicity for gene: CLCN6 was set to Other
DDG2P v3.11 CLCN4 Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN4.
Mode of inheritance for gene CLCN4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of pathogenicity for gene CLCN4 was changed from Other - please provide details in the comments to Other
Publications for gene: CLCN4 were updated from 23647072; 25644381 to 25644381; 27550844; 23647072
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CLCN3 Achchuthan Shanmugasundram gene: CLCN3 was added
gene: CLCN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN3 were set to 34186028
Phenotypes for gene: CLCN3 were set to CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512; CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517
DDG2P v3.11 CIT Achchuthan Shanmugasundram Source Expert Review Green was added to CIT.
Mode of pathogenicity for gene CIT was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CISD2 Achchuthan Shanmugasundram Publications for gene: CISD2 were updated from to 28335035; 25056293; 17846994; 10739754
DDG2P v3.11 CIC Achchuthan Shanmugasundram Source Expert Review Green was added to CIC.
Publications for gene: CIC were updated from to 35165976; 21076407; 28288114
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CIB2 Achchuthan Shanmugasundram Publications for gene: CIB2 were updated from 23023331 to 23023331; 18505454
DDG2P v3.11 CHSY1 Achchuthan Shanmugasundram Publications for gene: CHSY1 were updated from 9823490; 19952732; 21129727; 21129728 to 21129727; 19952732; 21129728; 9823490
DDG2P v3.11 CHST3 Achchuthan Shanmugasundram Publications for gene: CHST3 were updated from 19320654; 15098240; 18698629; 18513679; 112567; 20830804 to 19320654; 20830804; 112567; 15098240; 18513679; 18698629
DDG2P v3.11 CHST14 Achchuthan Shanmugasundram Publications for gene: CHST14 were updated from to 20533528; 20004762
DDG2P v3.11 CHRNB2 Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNB2.
Mode of pathogenicity for gene CHRNB2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHRNB1 Achchuthan Shanmugasundram gene: CHRNB1 was added
gene: CHRNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CHRNB1 were set to 8872460; 10562302; 33296147; 27375219; 8651643
Phenotypes for gene: CHRNB1 were set to CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314; CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313
DDG2P v3.11 CHRNA4 Achchuthan Shanmugasundram Mode of pathogenicity for gene CHRNA4 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CHRNA3 Achchuthan Shanmugasundram gene: CHRNA3 was added
gene: CHRNA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNA3 were set to 31708116
Phenotypes for gene: CHRNA3 were set to CHRNA3-related congenital anomalies of the kidney and urinary tract
DDG2P v3.11 CHRNA2 Achchuthan Shanmugasundram Source Expert Review Red was added to CHRNA2.
Mode of pathogenicity for gene CHRNA2 was changed from Other - please provide details in the comments to Other
Publications for gene: CHRNA2 were updated from to 25770198; 30809122; 16826524; 25847220
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CHRNA1 Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHRM1 Achchuthan Shanmugasundram gene: CHRM1 was added
gene: CHRM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CHRM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHRM1 were set to 34212451
Phenotypes for gene: CHRM1 were set to CHRM1-associated intellectual disability
Mode of pathogenicity for gene: CHRM1 was set to Other
DDG2P v3.11 CHRDL1 Achchuthan Shanmugasundram Publications for gene: CHRDL1 were updated from 22284829 to 22284829; 26020825; 25712132
DDG2P v3.11 CHMP1A Achchuthan Shanmugasundram Source Expert Review Green was added to CHMP1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHM Achchuthan Shanmugasundram Publications for gene: CHM were updated from 7981670; 1598901; 1302003; 8477262; 12827496; 21905166 to 21905166; 1302003; 28271586; 27070432; 7981670; 27820636; 12827496; 8477262; 1598901
DDG2P v3.11 CHKA Achchuthan Shanmugasundram gene: CHKA was added
gene: CHKA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHKA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKA were set to 35202461
Phenotypes for gene: CHKA were set to CHKA-related neurodevelopmental disorder
DDG2P v3.11 CHD8 Achchuthan Shanmugasundram Source Expert Review Green was added to CHD8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHD7 Achchuthan Shanmugasundram Publications for gene: CHD7 were updated from 17334995; 18978652; 17937444; 17661815; 16400610; 15300250; 18074359 to 16400610; 18978652; 17661815; 17334995; 26590800; 17937444; 15300250; 18074359
DDG2P v3.11 CHD5 Achchuthan Shanmugasundram gene: CHD5 was added
gene: CHD5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CHD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD5 were set to 33944996
Phenotypes for gene: CHD5 were set to CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy
DDG2P v3.11 CHD3 Achchuthan Shanmugasundram Source Expert Review Green was added to CHD3.
Mode of pathogenicity for gene CHD3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CHD1 Achchuthan Shanmugasundram gene: CHD1 was added
gene: CHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD1 were set to 28866611
Phenotypes for gene: CHD1 were set to CHD1-related neurodevelopment disorder
DDG2P v3.11 CHAMP1 Achchuthan Shanmugasundram Publications for gene: CHAMP1 were updated from 26340335 to 27148580; 26340335; 26751395; 35271727; 36106092
DDG2P v3.11 CFL2 Achchuthan Shanmugasundram Source Expert Review Green was added to CFL2.
Mode of pathogenicity for gene CFL2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CFC1 Achchuthan Shanmugasundram Source Expert Review Green was added to CFC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CEP85L Achchuthan Shanmugasundram gene: CEP85L was added
gene: CEP85L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to CEP85L-associated posterior-predominant lissencephaly, OMIM:618873
DDG2P v3.11 CEP63 Achchuthan Shanmugasundram Source Expert Review Green was added to CEP63.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CEP290 Achchuthan Shanmugasundram Publications for gene: CEP290 were updated from 17705300; 17564974 to 17705300; 16682970; 17554762; 22355252; 17564967; 17564974; 18327255; 16682973; 20690115; 16909394
DDG2P v3.11 CEP135 Achchuthan Shanmugasundram Source Expert Review Green was added to CEP135.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CENPJ Achchuthan Shanmugasundram Publications for gene: CENPJ were updated from 20522431 to 20522431; 20978018; 16900296; 12843329; 15793586
DDG2P v3.11 CENPF Achchuthan Shanmugasundram Source Expert Review Green was added to CENPF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CELF2 Achchuthan Shanmugasundram gene: CELF2 was added
gene: CELF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CELF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CELF2 were set to 33131106
Phenotypes for gene: CELF2 were set to CELF2-related neurodevelopmental disorder
DDG2P v3.11 CDT1 Achchuthan Shanmugasundram Publications for gene: CDT1 were updated from 11992493; 21358632 to 21358632; 11992493
DDG2P v3.11 CDON Achchuthan Shanmugasundram Mode of pathogenicity for gene CDON was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CDKN1C Achchuthan Shanmugasundram Publications for gene: CDKN1C were updated from 22634751; 24624461; 28508599; 20503313; 8841187; 14997421; 9341892 to 9341892; 8841187; 14997421; 24624461; 20503313; 22634751; 28508599
DDG2P v3.11 CDKL5 Achchuthan Shanmugasundram Publications for gene: CDKL5 were updated from 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098 to 35934918; 17993579; 18809835; 19396824; 15499549; 15689447; 19793311; 15492925; 16611748; 16813600; 19241098
DDG2P v3.11 CDK8 Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK8 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CDK5RAP2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDK5RAP2.
Publications for gene: CDK5RAP2 were updated from to 32015000
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CDK19 Achchuthan Shanmugasundram gene: CDK19 was added
gene: CDK19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDK19 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDK19 were set to 32330417
Phenotypes for gene: CDK19 were set to CDK19-associated Intellectual Disability and Epileptic Encephalopathy
Mode of pathogenicity for gene: CDK19 was set to Other
DDG2P v3.11 CDK16 Achchuthan Shanmugasundram Mode of inheritance for gene CDK16 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CDK16 were updated from 25644381 to 25644381; 36323681
DDG2P v3.11 CDK13 Achchuthan Shanmugasundram Mode of pathogenicity for gene CDK13 was changed from Other - please provide details in the comments to Other
Publications for gene: CDK13 were updated from 27479907 to 27479907; 29222009; 29021403; 28807008; 29393965
DDG2P v3.11 CDK10 Achchuthan Shanmugasundram Publications for gene: CDK10 were updated from 29130579; 28886341 to 28886341; 29130579
DDG2P v3.11 CDH3 Achchuthan Shanmugasundram Publications for gene: CDH3 were updated from 11544476; 12445216 to 15805154; 22140374; 11544476; 12445216
DDG2P v3.11 CDH23 Achchuthan Shanmugasundram Publications for gene: CDH23 were updated from 11090341; 15537665; 21228398; 11138009 to 21228398; 17850630; 12075507; 11138009; 15829536; 11090341; 15537665
DDG2P v3.11 CDH2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2.
Mode of pathogenicity for gene CDH2 was changed from Other - please provide details in the comments to Other
Publications for gene: CDH2 were updated from 31650526; 31585109 to 31585109; 31650526
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CDH15 Achchuthan Shanmugasundram Publications for gene: CDH15 were updated from 19012874; 26506440 to 26506440; 19012874
DDG2P v3.11 CDH11 Achchuthan Shanmugasundram gene: CDH11 was added
gene: CDH11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH11 were set to 30194892; 28988429; 29271567; 34278706
Phenotypes for gene: CDH11 were set to CDH11-related, OMIM:211380
DDG2P v3.11 CDH1 Achchuthan Shanmugasundram Mode of pathogenicity for gene CDH1 was changed from Other - please provide details in the comments to Other
Publications for gene: CDH1 were updated from 100000 to 100000; 29348693
DDG2P v3.11 CDC42BPB Achchuthan Shanmugasundram gene: CDC42BPB was added
gene: CDC42BPB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC42BPB were set to 32031333
Phenotypes for gene: CDC42BPB were set to CDC42BPB-related Neurodevelopmental Disorder
DDG2P v3.11 CDC42 Achchuthan Shanmugasundram gene: CDC42 was added
gene: CDC42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDC42 were set to 26708094; 29394990; 26386261
Phenotypes for gene: CDC42 were set to CDC42-related Neurodevelopmental Disorder
Mode of pathogenicity for gene: CDC42 was set to Other
DDG2P v3.11 CDC40 Achchuthan Shanmugasundram gene: CDC40 was added
gene: CDC40 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC40 were set to 33220177
Phenotypes for gene: CDC40 were set to CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
Mode of pathogenicity for gene: CDC40 was set to Other
DDG2P v3.11 CD96 Achchuthan Shanmugasundram Source Expert Review Red was added to CD96.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CD151 Achchuthan Shanmugasundram Source Expert Review Green was added to CD151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCND2 Achchuthan Shanmugasundram Mode of pathogenicity for gene CCND2 was changed from Other - please provide details in the comments to Other
Publications for gene: CCND2 were updated from to 24705253
DDG2P v3.11 CCDC88C Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC88C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC88A Achchuthan Shanmugasundram Mode of inheritance for gene CCDC88A was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 CCDC8 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC78 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC78.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC47 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC47.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC32 Achchuthan Shanmugasundram gene: CCDC32 was added
gene: CCDC32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC32 were set to 35451546; 32307552
Phenotypes for gene: CCDC32 were set to CCDC32-associated neurodevelopmental syndrome
DDG2P v3.11 CCDC22 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC22.
Mode of pathogenicity for gene CCDC22 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CCDC151 Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC151.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CC2D2A Achchuthan Shanmugasundram Publications for gene: CC2D2A were updated from 18950740; 18387594; 22246503 to 18513680; 22246503; 18387594; 23351400; 20671153; 19777577; 2929661; 19574260; 8862632; 18950740
DDG2P v3.11 CBS Achchuthan Shanmugasundram Publications for gene: CBS were updated from 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202 to 8353501; 8528202; 1301198; 10780316; 9361025; 7506602; 8990018; 14635102; 16479318; 10338090; 8755636
DDG2P v3.11 CBL Achchuthan Shanmugasundram Mode of pathogenicity for gene CBL was changed from Other - please provide details in the comments to Other
Publications for gene: CBL were updated from 20694012; 20619386; 20543203 to 20694012; 20543203; 20619386
DDG2P v3.11 CASK Achchuthan Shanmugasundram Publications for gene: CASK were updated from 21954287; 19165920 to 34085948; 19200522; 19165920; 21954287; 19377476; 20029458
DDG2P v3.11 CARS2 Achchuthan Shanmugasundram Source Expert Review Green was added to CARS2.
Publications for gene: CARS2 were updated from 25787132; 25361775 to 25361775; 25787132
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CARS Achchuthan Shanmugasundram Source Expert Review Green was added to CARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAPRIN1 Achchuthan Shanmugasundram Source Expert Review Green was added to CAPRIN1.
Mode of pathogenicity for gene CAPRIN1 was changed from to Other
Publications for gene: CAPRIN1 were updated from 23849776 to 23849776; 35979925
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 CANT1 Achchuthan Shanmugasundram gene: CANT1 was added
gene: CANT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CANT1 were set to 19853239
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia 1, OMIM:251450
DDG2P v3.11 CAMTA1 Achchuthan Shanmugasundram Source Expert Review Green was added to CAMTA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAMSAP1 Achchuthan Shanmugasundram gene: CAMSAP1 was added
gene: CAMSAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAMSAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAMSAP1 were set to 36283405
Phenotypes for gene: CAMSAP1 were set to CAMSAP1-associated neuronal migration disorder
DDG2P v3.11 CAMK2G Achchuthan Shanmugasundram gene: CAMK2G was added
gene: CAMK2G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2G were set to 23033978; 30184290
Phenotypes for gene: CAMK2G were set to INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522
Mode of pathogenicity for gene: CAMK2G was set to Other
DDG2P v3.11 CAMK2B Achchuthan Shanmugasundram Source Expert Review Green was added to CAMK2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAMK2A Achchuthan Shanmugasundram Source Expert Review Green was added to CAMK2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CAD Achchuthan Shanmugasundram Publications for gene: CAD were updated from to 25678555; 28007989
DDG2P v3.11 CACNB4 Achchuthan Shanmugasundram Source Expert Review Red was added to CACNB4.
Publications for gene: CACNB4 were updated from to 10762541
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 CACNA2D1 Achchuthan Shanmugasundram gene: CACNA2D1 was added
gene: CACNA2D1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D1 were set to 35293990
Phenotypes for gene: CACNA2D1 were set to CACNA2D1-related neurodevelopmental disorder
Mode of pathogenicity for gene: CACNA2D1 was set to Other
DDG2P v3.11 CACNA1H Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1H was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CACNA1G Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1G.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CACNA1E Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1E was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CACNA1D Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1D.
Publications for gene: CACNA1D were updated from 23913001 to 21131953; 23913001
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CACNA1C Achchuthan Shanmugasundram Mode of pathogenicity for gene CACNA1C was changed from Other - please provide details in the comments to Other
DDG2P v3.11 CACNA1B Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CACNA1A Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1A.
Mode of pathogenicity for gene CACNA1A was changed from Other - please provide details in the comments to Other
Publications for gene: CACNA1A were updated from 27476654; 28927557; 28742085; 23934111; 29366381 to 28927557; 27476654; 23934111; 29366381; 28742085
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CA8 Achchuthan Shanmugasundram Publications for gene: CA8 were updated from 19461874; 21937992 to 21937992; 19461874
DDG2P v3.11 CA5A Achchuthan Shanmugasundram Source Expert Review Green was added to CA5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 CA2 Achchuthan Shanmugasundram Publications for gene: CA2 were updated from 12566520; 8127074; 5041390; 1301935 to 5041390; 12566520; 8127074; 1301935
DDG2P v3.11 C8orf37 Achchuthan Shanmugasundram Publications for gene: C8orf37 were updated from 22177090 to 27008867; 26854863; 25802487; 22177090; 26865426; 25113443
DDG2P v3.11 C2orf71 Achchuthan Shanmugasundram Publications for gene: C2orf71 were updated from to 27029556; 20398886; 24780881; 20398884
DDG2P v3.11 C2CD3 Achchuthan Shanmugasundram Source Expert Review Green was added to C2CD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C21orf59 Achchuthan Shanmugasundram Source Expert Review Green was added to C21orf59.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C1QBP Achchuthan Shanmugasundram Source Expert Review Green was added to C1QBP.
Mode of pathogenicity for gene C1QBP was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C12orf65 Achchuthan Shanmugasundram Publications for gene: C12orf65 were updated from to 24198383; 20598281; 26380172; 24284555; 24080142; 24424123; 23188110; 27858754
DDG2P v3.11 C12orf57 Achchuthan Shanmugasundram Source Expert Review Green was added to C12orf57.
Mode of pathogenicity for gene C12orf57 was changed from Other - please provide details in the comments to Other
Publications for gene: C12orf57 were updated from 23453666 to 24798461; 23453666
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 C11orf70 Achchuthan Shanmugasundram Publications for gene: C11orf70 were updated from 29727693; 29727692 to 29727692; 29727693
DDG2P v3.11 BUB1B Achchuthan Shanmugasundram Publications for gene: BUB1B were updated from 9916837; 21190457; 16411201; 11169558; 15475955 to 21190457; 9916837; 16411201; 11169558; 15475955
DDG2P v3.11 BUB1 Achchuthan Shanmugasundram gene: BUB1 was added
gene: BUB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1 were set to 35044816
Phenotypes for gene: BUB1 were set to BUB1-related microcephaly and developmental disorder
DDG2P v3.11 BTD Achchuthan Shanmugasundram Publications for gene: BTD were updated from 9099842; 10801053; 9705240; 9375914; 7550325; 8894703; 9158148 to 7550325; 9158148; 8894703; 9375914; 10801053; 9705240; 9099842
DDG2P v3.11 BSND Achchuthan Shanmugasundram Publications for gene: BSND were updated from 19646679; 12574213; 11687798 to 12574213; 11687798; 19646679
DDG2P v3.11 BSN Achchuthan Shanmugasundram gene: BSN was added
gene: BSN was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: BSN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BSN were set to 36600631
Phenotypes for gene: BSN were set to BSN-related epilepsy
Mode of pathogenicity for gene: BSN was set to Other
DDG2P v3.11 BRWD3 Achchuthan Shanmugasundram Publications for gene: BRWD3 were updated from 17668385 to 17668385; 30628072; 31714006
DDG2P v3.11 BRSK2 Achchuthan Shanmugasundram Source Expert Review Green was added to BRSK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BRPF1 Achchuthan Shanmugasundram Publications for gene: BRPF1 were updated from 27939639; 27939640 to 27939640; 27939639
DDG2P v3.11 BRF1 Achchuthan Shanmugasundram gene: BRF1 was added
gene: BRF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 27748960; 25561519; 32896090
Phenotypes for gene: BRF1 were set to BRF1-related cerebellofaciodental syndrome, OMIM:616202
DDG2P v3.11 BRD4 Achchuthan Shanmugasundram Source Expert Review Green was added to BRD4.
Publications for gene: BRD4 were updated from 29379197; 30302754 to 30302754; 29379197
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BRCA2 Achchuthan Shanmugasundram Publications for gene: BRCA2 were updated from to 14670928; 15070707; 12065746
DDG2P v3.11 BRCA1 Achchuthan Shanmugasundram Publications for gene: BRCA1 were updated from 12624153 to 34680915; 12624153
DDG2P v3.11 BRAT1 Achchuthan Shanmugasundram Source Expert Review Green was added to BRAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BRAF Achchuthan Shanmugasundram Mode of pathogenicity for gene BRAF was changed from Other - please provide details in the comments to Other
Publications for gene: BRAF were updated from 18042262; 16474404; 16372351 to 16372351; 19206169; 16474404; 18042262
DDG2P v3.11 BPTF Achchuthan Shanmugasundram Source Expert Review Green was added to BPTF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BOLA3 Achchuthan Shanmugasundram Source Expert Review Green was added to BOLA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BMPR1B Achchuthan Shanmugasundram Publications for gene: BMPR1B were updated from 14523231; 18203755 to 18203755; 14523231
DDG2P v3.11 BMP4 Achchuthan Shanmugasundram Publications for gene: BMP4 were updated from 21340693; 18252212 to 18252212; 19249007; 21340693
DDG2P v3.11 BMP2 Achchuthan Shanmugasundram Source Expert Review Green was added to BMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BLOC1S6 Achchuthan Shanmugasundram Source Expert Review Green was added to BLOC1S6.
Publications for gene: BLOC1S6 were updated from 21665000 to 21665000; 22461475
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 BLM Achchuthan Shanmugasundram Publications for gene: BLM were updated from to 10678659; 7585968; 8875252
DDG2P v3.11 BIN1 Achchuthan Shanmugasundram Publications for gene: BIN1 were updated from 20142620; 17676042 to 17676042; 20142620
DDG2P v3.11 BICRA Achchuthan Shanmugasundram gene: BICRA was added
gene: BICRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to BICRA-related Developmental Disorder
DDG2P v3.11 BICD2 Achchuthan Shanmugasundram Mode of pathogenicity for gene BICD2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 BHLHA9 Achchuthan Shanmugasundram Mode of pathogenicity for gene BHLHA9 was changed from Other - please provide details in the comments to Other
Publications for gene: BHLHA9 were updated from 23790188; 22147889 to 22147889; 23790188; 25466284
DDG2P v3.11 BGN Achchuthan Shanmugasundram Publications for gene: BGN were updated from 27632686 to 27632686; 27236923; 34807424
DDG2P v3.11 BFSP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene BFSP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 BCORL1 Achchuthan Shanmugasundram gene: BCORL1 was added
gene: BCORL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCORL1 were set to 30941876; 33810051; 34400773; 24123876
Phenotypes for gene: BCORL1 were set to Shukla-Vernon Syndrome
Mode of pathogenicity for gene: BCORL1 was set to Other
DDG2P v3.11 BCOR Achchuthan Shanmugasundram Publications for gene: BCOR were updated from 15957158; 19367324; 15004558; 15770227 to 29974297; 28317252; 19367324; 15957158; 31048080; 15004558; 15770227
DDG2P v3.11 BCL11B Achchuthan Shanmugasundram gene: BCL11B was added
gene: BCL11B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCL11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BCL11B were set to BCL11B-related developmental disorder (monoallelic)
DDG2P v3.11 BCL11A Achchuthan Shanmugasundram Publications for gene: BCL11A were updated from 27453576; 25533962 to 25533962; 35856171; 27453576
DDG2P v3.11 BCKDHA Achchuthan Shanmugasundram Publications for gene: BCKDHA were updated from 18378174; 7883996; 8430702; 2010537; 11509994; 2022752; 14508502; 1990841; 14742428; 1847055; 9621512; 2703538; 9582350 to 1847055; 1990841; 14508502; 11509994; 9582350; 2703538; 18378174; 14742428; 9621512; 8430702; 7883996; 2010537; 2022752
DDG2P v3.11 BCAS3 Achchuthan Shanmugasundram gene: BCAS3 was added
gene: BCAS3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy
DDG2P v3.11 BBS9 Achchuthan Shanmugasundram Publications for gene: BBS9 were updated from to 16380913; 22353939
DDG2P v3.11 BBS7 Achchuthan Shanmugasundram Publications for gene: BBS7 were updated from to 12567324
DDG2P v3.11 BBS5 Achchuthan Shanmugasundram Publications for gene: BBS5 were updated from to 18203199; 15137946
DDG2P v3.11 BBS4 Achchuthan Shanmugasundram Publications for gene: BBS4 were updated from to 11381270; 12016587
DDG2P v3.11 BBS2 Achchuthan Shanmugasundram Publications for gene: BBS2 were updated from to 20618352; 11567139; 16823392; 11285252
DDG2P v3.11 BBS12 Achchuthan Shanmugasundram Publications for gene: BBS12 were updated from to 19797195; 26082521; 17160889; 20827784
DDG2P v3.11 BBS10 Achchuthan Shanmugasundram Publications for gene: BBS10 were updated from to 26762677; 20805367; 16582908
DDG2P v3.11 BBS1 Achchuthan Shanmugasundram Publications for gene: BBS1 were updated from to 23143442; 12524598; 10577922; 10577921; 20177705; 12118255; 12837689
DDG2P v3.11 BAZ2B Achchuthan Shanmugasundram gene: BAZ2B was added
gene: BAZ2B was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: BAZ2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAZ2B were set to 31999386
Phenotypes for gene: BAZ2B were set to BAZ2B-associated neurodevelopmental disorder
DDG2P v3.11 BAP1 Achchuthan Shanmugasundram gene: BAP1 was added
gene: BAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BAP1 were set to 35051358
Phenotypes for gene: BAP1 were set to BAP1-associated neurodevelopmental syndrome
Mode of pathogenicity for gene: BAP1 was set to Other
DDG2P v3.11 BANF1 Achchuthan Shanmugasundram Source Expert Review Green was added to BANF1.
Mode of pathogenicity for gene BANF1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 B9D1 Achchuthan Shanmugasundram Source Expert Review Green was added to B9D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 B4GALT1 Achchuthan Shanmugasundram gene: B4GALT1 was added
gene: B4GALT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT1 were set to 32157688; 21920538; 11901181
Phenotypes for gene: B4GALT1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091
DDG2P v3.11 B3GAT3 Achchuthan Shanmugasundram Mode of pathogenicity for gene B3GAT3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 B3GALNT2 Achchuthan Shanmugasundram Source Expert Review Green was added to B3GALNT2.
Publications for gene: B3GALNT2 were updated from 23453667 to 29791932; 23453667
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AXIN1 Achchuthan Shanmugasundram Mode of inheritance for gene AXIN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene AXIN1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 AUTS2 Achchuthan Shanmugasundram Publications for gene: AUTS2 were updated from 23332918 to 26545289; 23650183; 25205402; 23332918; 31788251; 27531620; 27075013; 24459036
DDG2P v3.11 AUH Achchuthan Shanmugasundram Publications for gene: AUH were updated from 20855850; 15033206; 12434311; 10070612; 6181239 to 6181239; 20855850; 15033206; 10070612; 12434311
DDG2P v3.11 ATRX Achchuthan Shanmugasundram Publications for gene: ATRX were updated from 12116232; 10995512; 8644709; 15565397; 9598720; 9244431; 7697714 to 16222662; 9244431; 7697714; 10632111; 15565397; 10751095; 9598720; 9043863; 10995512; 8644709; 6711605; 12116232; 6682021
DDG2P v3.11 ATR Achchuthan Shanmugasundram Source Expert Review Green was added to ATR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP9A Achchuthan Shanmugasundram gene: ATP9A was added
gene: ATP9A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP9A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP9A were set to 34379057; 34764295
Phenotypes for gene: ATP9A were set to ATP9A-related neurodevelopmental disorder
DDG2P v3.11 ATP8A2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP8A2 was changed from Other - please provide details in the comments to Other
Publications for gene: ATP8A2 were updated from 22892528 to 16075202; 22892528
DDG2P v3.11 ATP7A Achchuthan Shanmugasundram Publications for gene: ATP7A were updated from 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525 to 8149649; 11431706; 15372525; 19194885; 9246006; 17108763; 20170900; 10739752; 14635105; 9894833; 12221109; 19153371; 7842019; 8812725
DDG2P v3.11 ATP6V1E1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1E1.
Mode of pathogenicity for gene ATP6V1E1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP6V1B2 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1B2.
Mode of pathogenicity for gene ATP6V1B2 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP6V1A Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V1A.
Mode of pathogenicity for gene ATP6V1A was changed from Other - please provide details in the comments to Other
Publications for gene: ATP6V1A were updated from 28065471; 33320377; 29668857; 32045939 to 28065471; 29668857; 33320377; 32045939
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP6V0C Achchuthan Shanmugasundram gene: ATP6V0C was added
gene: ATP6V0C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V0C were set to 36074901; 33190975; 24623842; 28135719
Phenotypes for gene: ATP6V0C were set to ATP6V0C-related Developmental Disorder
DDG2P v3.11 ATP6V0A1 Achchuthan Shanmugasundram gene: ATP6V0A1 was added
gene: ATP6V0A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V0A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V0A1 were set to 33057194; 28135719; 30842224
Phenotypes for gene: ATP6V0A1 were set to ATP6V0A1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: ATP6V0A1 was set to Other
DDG2P v3.11 ATP6AP2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP6AP2 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ATP5D Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5D.
Mode of pathogenicity for gene ATP5D was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATP5A1 Achchuthan Shanmugasundram gene: ATP5A1 was added
gene: ATP5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP5A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP5A1 were set to 34483339; 23599390; 23596069
Phenotypes for gene: ATP5A1 were set to ATP5F1A-related mitochondrial encephalopathy, OMIM:615228; ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia
Mode of pathogenicity for gene: ATP5A1 was set to Other
DDG2P v3.11 ATP2B1 Achchuthan Shanmugasundram gene: ATP2B1 was added
gene: ATP2B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP2B1 were set to 35358416
Phenotypes for gene: ATP2B1 were set to ATP2B1-related neurodevelopmental disorder
DDG2P v3.11 ATP1A3 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP1A3 was changed from Other - please provide details in the comments to Other
Publications for gene: ATP1A3 were updated from 22842232 to 33880529; 22842232
DDG2P v3.11 ATP1A2 Achchuthan Shanmugasundram gene: ATP1A2 was added
gene: ATP1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATP1A2 were set to 31608932; 20837964; 17435187; 30690204; 33880529; 33493807
Phenotypes for gene: ATP1A2 were set to ATP1A2-related epileptic encephalopathy; MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related; Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy
DDG2P v3.11 ATP1A1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATP1A1.
Mode of pathogenicity for gene ATP1A1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATOH7 Achchuthan Shanmugasundram Mode of pathogenicity for gene ATOH7 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ATN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1.
Mode of pathogenicity for gene ATN1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ATM Achchuthan Shanmugasundram Publications for gene: ATM were updated from 9443866; 11826028; 8968760; 9450874; 9600235; 8755918; 22345219; 7792600; 9887333; 8808599; 9781027; 2491181; 11889466; 9521587 to 8755918; 9887333; 11826028; 8808599; 9450874; 9600235; 7792600; 11889466; 22345219; 8968760; 2491181; 9521587; 9443866; 9781027
DDG2P v3.11 ATL1 Achchuthan Shanmugasundram gene: ATL1 was added
gene: ATL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to 35925862
Phenotypes for gene: ATL1 were set to ATL1-associated hereditary spastic paraplegia
DDG2P v3.11 ATG7 Achchuthan Shanmugasundram Source Expert Review Green was added to ATG7.
Source DD-Gene2Phenotype was added to ATG7.
Added phenotypes ATG7-related intellectual disability and ataxia, OMIM:619422 for gene: ATG7
Publications for gene: ATG7 were updated from PMID:34161705 to 34161705; PMID:34161705
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v3.11 ATG4D Achchuthan Shanmugasundram gene: ATG4D was added
gene: ATG4D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ATG4D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG4D were set to 36765070
Phenotypes for gene: ATG4D were set to ATG4D-related neurodevelopmental disorder
Mode of pathogenicity for gene: ATG4D was set to Other
DDG2P v3.11 ATAD3A Achchuthan Shanmugasundram Mode of inheritance for gene ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were updated from 27640307 to 32004445; 27640307
DDG2P v3.11 ASXL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ASXL3.
Publications for gene: ASXL3 were updated from 23383720 to 29316359; 24044690; 29367179; 31180560; 27075689; 27901041; 29305346; 28955728; 23383720; 28100473; 32240826; 31638014; 29445472
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASXL2 Achchuthan Shanmugasundram Source Expert Review Green was added to ASXL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASXL1 Achchuthan Shanmugasundram Publications for gene: ASXL1 were updated from 21706002; 22419483 to 22419483; 21706002
DDG2P v3.11 ASPH Achchuthan Shanmugasundram Source Expert Review Green was added to ASPH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASPA Achchuthan Shanmugasundram Publications for gene: ASPA were updated from 8252036; 8023850; 8088831; 7599639; 16437572; 7668285; 10909858; 12638939; 10564886; 8659549 to 8088831; 8659549; 12638939; 7599639; 8252036; 10564886; 10909858; 7668285; 8023850; 16437572
DDG2P v3.11 ASNS Achchuthan Shanmugasundram gene: ASNS was added
gene: ASNS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASNS were set to 24139043; 27743885; 32255274; 28776279; 27268761; 31720226; 30978478; 27522229; 25227173; 27469131; 29375865; 29279279; 31123592; 32481472; 25663424; 30057589; 27422383
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, OMIM:615574
DDG2P v3.11 ASL Achchuthan Shanmugasundram Publications for gene: ASL were updated from 2263616; 12408190; 12384776 to 2263616; 12408190; 12384776
DDG2P v3.11 ASH1L Achchuthan Shanmugasundram Source Expert Review Green was added to ASH1L.
Mode of pathogenicity for gene ASH1L was changed from Other - please provide details in the comments to Other
Publications for gene: ASH1L were updated from 25961944; 28394464; 29753921; 29276005 to 29276005; 29753921; 25961944; 28394464
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ASCL1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCL1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ASCC3 Achchuthan Shanmugasundram Mode of pathogenicity for gene ASCC3 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ASCC1 Achchuthan Shanmugasundram Publications for gene: ASCC1 were updated from 26924529 to 35838082; 26924529
DDG2P v3.11 ASAH1 Achchuthan Shanmugasundram Publications for gene: ASAH1 were updated from 22703880 to 22703880; 8955159; 11241842; 10610716; 16951918
DDG2P v3.11 ARX Achchuthan Shanmugasundram Publications for gene: ARX were updated from 14722918; 11891829; 12379852 to 12379852; 21108397; 19606478; 18462864; 19738637; 11971879; 10353782; 12177367; 17668384; 1605226; 11891829; 21204226; 14722918; 11889467
DDG2P v3.11 ARSE Achchuthan Shanmugasundram Publications for gene: ARSE were updated from 9409863; 7720070; 12567415 to 7720070; 12567415; 9409863
DDG2P v3.11 ARSB Achchuthan Shanmugasundram Publications for gene: ARSB were updated from 1718978; 1301949; 17643332; 8723688; 1550123; 8651289 to 1550123; 17643332; 8723688; 1301949; 1718978; 8651289
DDG2P v3.11 ARSA Achchuthan Shanmugasundram Publications for gene: ARSA were updated from 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462 to 1670590; 7906588; 8101038; 8104633; 9600244; 11941485; 11456299; 7833949; 7909527; 7858169; 1678251; 7815433; 1353340; 1673291; 12788103; 2574462; 11061266; 8101083; 7902317; 7866401; 1676699; 7981715; 1684088
DDG2P v3.11 ARPC4 Achchuthan Shanmugasundram gene: ARPC4 was added
gene: ARPC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARPC4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARPC4 were set to 35047857
Phenotypes for gene: ARPC4 were set to ARPC4-related microcephaly and developmental delay
Mode of pathogenicity for gene: ARPC4 was set to Other
DDG2P v3.11 ARNT2 Achchuthan Shanmugasundram gene: ARNT2 was added
gene: ARNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARNT2 were set to 24022475
Phenotypes for gene: ARNT2 were set to ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926
DDG2P v3.11 ARL6 Achchuthan Shanmugasundram Publications for gene: ARL6 were updated from 19956407 to 12016587; 11381270; 7987310; 16582908; 15137946; 12118255; 19956407; 21937992; 20805367; 15314642; 12567324; 22353939; 15258860; 20618352; 11567139; 7711739; 16308660; 16606853; 18327255; 10973251; 12837689; 18203199; 8298649; 17160889; 14520415; 9714014; 12524598; 10973238; 20671153; 16380913
DDG2P v3.11 ARL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3.
Mode of pathogenicity for gene ARL3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARL14EP Achchuthan Shanmugasundram Mode of pathogenicity for gene ARL14EP was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ARID2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2.
Publications for gene: ARID2 were updated from 28124119 to 36756859; 28124119
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARID1B Achchuthan Shanmugasundram Publications for gene: ARID1B were updated from 22426309; 22426308; 22405089; 30349098 to 30349098; 22426309; 22426308; 22405089
DDG2P v3.11 ARHGEF9 Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGEF9.
Mode of inheritance for gene ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ARHGEF9 were updated from 21633362 to 21633362; 28589176
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 ARHGAP35 Achchuthan Shanmugasundram gene: ARHGAP35 was added
gene: ARHGAP35 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGAP35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARHGAP35 were set to 33057194; 28641477
Phenotypes for gene: ARHGAP35 were set to ARHGAP35-related developmental disorder (monoallelic)
DDG2P v3.11 ARHGAP31 Achchuthan Shanmugasundram Source Expert Review Green was added to ARHGAP31.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARG1 Achchuthan Shanmugasundram Publications for gene: ARG1 were updated from 10502833; 2365823; 1463019; 7649538; 1598908 to 1463019; 1598908; 2365823; 10502833; 7649538
DDG2P v3.11 ARFGEF2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARFGEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ARFGEF1 Achchuthan Shanmugasundram gene: ARFGEF1 was added
gene: ARFGEF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARFGEF1 were set to 34113008
Phenotypes for gene: ARFGEF1 were set to ARFGEF1-related intellectual disability and epilepsy
DDG2P v3.11 ARF3 Achchuthan Shanmugasundram gene: ARF3 was added
gene: ARF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARF3 were set to 36369169
Phenotypes for gene: ARF3 were set to ARF3-related neurodevelopmental disorder
Mode of pathogenicity for gene: ARF3 was set to Other
DDG2P v3.11 ARF1 Achchuthan Shanmugasundram gene: ARF1 was added
gene: ARF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARF1 were set to 33057194; 28868155; 34353862
Phenotypes for gene: ARF1 were set to PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615
Mode of pathogenicity for gene: ARF1 was set to Other
DDG2P v3.11 ARCN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ARCN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 APTX Achchuthan Shanmugasundram Publications for gene: APTX were updated from 12196655; 11586300; 11586299; 15365154; 15852392 to 15852392; 11586300; 12196655; 11586299; 15365154
DDG2P v3.11 APOPT1 Achchuthan Shanmugasundram Publications for gene: APOPT1 were updated from to 25175347; 27588451
DDG2P v3.11 APC2 Achchuthan Shanmugasundram Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP4S1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP4S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP4M1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP4M1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP4B1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP4B1.
Publications for gene: AP4B1 were updated from 21620353; 22290197 to 22290197; 21620353
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP3B2 Achchuthan Shanmugasundram Source Expert Review Green was added to AP3B2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP2S1 Achchuthan Shanmugasundram gene: AP2S1 was added
gene: AP2S1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP2S1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AP2S1 were set to 33057194
Phenotypes for gene: AP2S1 were set to AP2S1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: AP2S1 was set to Other
DDG2P v3.11 AP2M1 Achchuthan Shanmugasundram Source Expert Review Green was added to AP2M1.
Mode of pathogenicity for gene AP2M1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AP1S2 Achchuthan Shanmugasundram Publications for gene: AP1S2 were updated from 17617514; 5054319; 10398241; 17186471; 12599187 to 17617514; 17186471; 12599187; 5054319; 10398241
DDG2P v3.11 AP1G1 Achchuthan Shanmugasundram gene: AP1G1 was added
gene: AP1G1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP1G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AP1G1 were set to 34102099
Phenotypes for gene: AP1G1 were set to AP1G1-related intellectual disability, biallelic; AP1G1-related intellectual disability and epilepsy, monoallelic
DDG2P v3.11 AP1B1 Achchuthan Shanmugasundram gene: AP1B1 was added
gene: AP1B1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: AP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP1B1 were set to 31630791; 31630788
Phenotypes for gene: AP1B1 were set to MEDNIK-like Syndrome
DDG2P v3.11 ANO5 Achchuthan Shanmugasundram Mode of inheritance for gene ANO5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 ANO1 Achchuthan Shanmugasundram gene: ANO1 was added
gene: ANO1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ANO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANO1 were set to 32487539
Phenotypes for gene: ANO1 were set to ANO1-associated intestinal disease
DDG2P v3.11 ANKRD26 Achchuthan Shanmugasundram Source Expert Review Green was added to ANKRD26.
Mode of pathogenicity for gene ANKRD26 was changed from Other - please provide details in the comments to Other
Publications for gene: ANKRD26 were updated from 21211618; 10521306 to 10521306; 21211618
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ANKRD17 Achchuthan Shanmugasundram gene: ANKRD17 was added
gene: ANKRD17 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKRD17 were set to 33909992
Phenotypes for gene: ANKRD17 were set to ANKRD17-associated neurodevelopmental disorder
DDG2P v3.11 ANKRD11 Achchuthan Shanmugasundram Publications for gene: ANKRD11 were updated from 15523620; 15378538; 21782149 to 23494856; 25464108; 30877071; 15378538; 28449295; 23184435; 29224748; 30088855; 25652421; 21782149; 15523620; 28250421; 27667800; 27900361; 25838844
DDG2P v3.11 ANKH Achchuthan Shanmugasundram Publications for gene: ANKH were updated from 13130483; 8528213; 12297987; 8244341; 12297989; 9915952 to 9915952; 12297989; 12297987; 2712793; 13130483; 8528213; 11326272; 14322785; 8244341; 20358596
DDG2P v3.11 ANK2 Achchuthan Shanmugasundram gene: ANK2 was added
gene: ANK2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANK2 were set to 25356970; 30755392; 22542183; 28191889
Phenotypes for gene: ANK2 were set to ANK2-related neurodevelopmental disorder
DDG2P v3.11 AMOTL1 Achchuthan Shanmugasundram Source Expert Review Green was added to AMOTL1.
Source DD-Gene2Phenotype was added to AMOTL1.
Mode of inheritance for gene AMOTL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature for gene: AMOTL1
Publications for gene: AMOTL1 were updated from PMID: 36751037 to PMID: 36751037; 36751037
Rating Changed from No List (delete) to Green List (high evidence)
DDG2P v3.11 AMER1 Achchuthan Shanmugasundram Publications for gene: AMER1 were updated from to 19079258
DDG2P v3.11 ALPL Achchuthan Shanmugasundram Mode of pathogenicity for gene ALPL was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ALMS1 Achchuthan Shanmugasundram Publications for gene: ALMS1 were updated from 11941370; 11941369; 21877133; 9063741; 17594715; 17850632 to 11941369; 22043170; 9063741; 17850632; 21877133; 17594715; 11941370
DDG2P v3.11 ALKBH8 Achchuthan Shanmugasundram gene: ALKBH8 was added
gene: ALKBH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALKBH8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALKBH8 were set to 31079898; 33544954; 34757492
Phenotypes for gene: ALKBH8 were set to ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504
DDG2P v3.11 ALG9 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALG2 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALG13 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG13.
Mode of inheritance for gene ALG13 was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mode of pathogenicity for gene ALG13 was changed from Other - please provide details in the comments to Other
Publications for gene: ALG13 were updated from 22492991 to 22492991; 23934111; 28887793
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALG12 Achchuthan Shanmugasundram Publications for gene: ALG12 were updated from 12217961; 11983712; 12093361 to 11983712; 12093361; 12217961
DDG2P v3.11 ALG11 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ALDOA Achchuthan Shanmugasundram Mode of pathogenicity for gene ALDOA was changed from Other - please provide details in the comments to Other
Publications for gene: ALDOA were updated from 8598869; 2825199 to 2825199; 8598869
DDG2P v3.11 ALDH7A1 Achchuthan Shanmugasundram Publications for gene: ALDH7A1 were updated from 16491085; 17721876; 17068770 to 17068770; 16491085; 17721876
DDG2P v3.11 ALDH3A2 Achchuthan Shanmugasundram Publications for gene: ALDH3A2 were updated from 9250352; 9254849; 8528251; 10792573; 10577908 to 9250352; 10577908; 10792573; 8528251; 9254849
DDG2P v3.11 ALDH1A3 Achchuthan Shanmugasundram Publications for gene: ALDH1A3 were updated from 23312594 to 24568872; 23312594; 26873617; 23646827; 24024553; 24777706; 23591992
DDG2P v3.11 ALDH1A2 Achchuthan Shanmugasundram gene: ALDH1A2 was added
gene: ALDH1A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183
Phenotypes for gene: ALDH1A2 were set to ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia
Mode of pathogenicity for gene: ALDH1A2 was set to Other
DDG2P v3.11 ALDH18A1 Achchuthan Shanmugasundram Publications for gene: ALDH18A1 were updated from 26320891 to 26829900; 26297557; 26320891; 26297558; 28228640; 26026163
DDG2P v3.11 ALAD Achchuthan Shanmugasundram Source Expert Review Red was added to ALAD.
Mode of pathogenicity for gene ALAD was changed from Other - please provide details in the comments to Other
Rating Changed from Green List (high evidence) to Red List (low evidence)
DDG2P v3.11 AKT3 Achchuthan Shanmugasundram Source Expert Review Green was added to AKT3.
Mode of pathogenicity for gene AKT3 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AKT2 Achchuthan Shanmugasundram gene: AKT2 was added
gene: AKT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT2 were set to 28541532; 26003998; 24285683; 21979934
Phenotypes for gene: AKT2 were set to AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900
Mode of pathogenicity for gene: AKT2 was set to Other
DDG2P v3.11 AKT1 Achchuthan Shanmugasundram Mode of pathogenicity for gene AKT1 was changed from Other - please provide details in the comments to Other
Publications for gene: AKT1 were updated from 21793738; 22876373 to 22876373; 21793738
DDG2P v3.11 AIRE Achchuthan Shanmugasundram Publications for gene: AIRE were updated from 9398839 to 9398839; 12050215; 16965330; 9398840; 9837820
DDG2P v3.11 AIPL1 Achchuthan Shanmugasundram Publications for gene: AIPL1 were updated from 10615133; 10873396 to 10615133; 26650897; 10873396
DDG2P v3.11 AIMP1 Achchuthan Shanmugasundram Source Expert Review Green was added to AIMP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AIFM1 Achchuthan Shanmugasundram Source Expert Review Green was added to AIFM1.
Mode of pathogenicity for gene AIFM1 was changed from Other - please provide details in the comments to Other
Publications for gene: AIFM1 were updated from 20362274 to 23217327; 20362274
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AHI1 Achchuthan Shanmugasundram Publications for gene: AHI1 were updated from 16453322 to 25616960; 16453322; 16155189; 15467982; 25356976; 28442542; 16240161
DDG2P v3.11 AHDC1 Achchuthan Shanmugasundram Publications for gene: AHDC1 were updated from 24791903 to 31182893; 27148574; 30622101; 30729726; 30152016; 29230160; 30858058; 24791903; 29696776; 35596688; 32256298; 31812316
DDG2P v3.11 AGTPBP1 Achchuthan Shanmugasundram gene: AGTPBP1 was added
gene: AGTPBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGTPBP1 were set to 30420557; 30976113; 31102495; 28600779
Phenotypes for gene: AGTPBP1 were set to NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276
DDG2P v3.11 AGPS Achchuthan Shanmugasundram Mode of pathogenicity for gene AGPS was changed from Other - please provide details in the comments to Other
Publications for gene: AGPS were updated from 7807941; 11152660 to 11152660; 7807941
DDG2P v3.11 AGO1 Achchuthan Shanmugasundram gene: AGO1 was added
gene: AGO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AGO1 were set to 35060114
Phenotypes for gene: AGO1 were set to AGO1-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: AGO1 was set to Other
DDG2P v3.11 AGL Achchuthan Shanmugasundram Publications for gene: AGL were updated from 11378828; 9490286; 8755644; 10571954; 8990006; 19834502; 9412782; 10655153; 10925384; 8702417 to 8702417; 19834502; 9412782; 8990006; 11378828; 10571954; 8755644; 10925384; 10655153; 9490286
DDG2P v3.11 AGK Achchuthan Shanmugasundram Publications for gene: AGK were updated from 15168109; 22284826; 22277967; 3560758 to 22415731; 22284826; 22277967; 26622071; 3560758; 25208612; 15168109; 23266196
DDG2P v3.11 AGA Achchuthan Shanmugasundram Publications for gene: AGA were updated from 6883788; 1765378; 8776587 to 1765378; 8776587; 6883788
DDG2P v3.11 AFG3L2 Achchuthan Shanmugasundram Source Expert Review Red was added to AFG3L2.
Mode of inheritance for gene AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were updated from 22964162 to 28449981; 22022284; 31111429; 32248051; 22964162; 32237276
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
DDG2P v3.11 AFF4 Achchuthan Shanmugasundram Mode of pathogenicity for gene AFF4 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 AFF3 Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3.
Mode of pathogenicity for gene AFF3 was changed from Other - please provide details in the comments to Other
Publications for gene: AFF3 were updated from 100000 to 36576140; 33961779; 100000
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AFF2 Achchuthan Shanmugasundram Publications for gene: AFF2 were updated from 21739600; 8334699 to 8334699; 21739600
DDG2P v3.11 ADSL Achchuthan Shanmugasundram Mode of pathogenicity for gene ADSL was changed from Other - please provide details in the comments to Other
Publications for gene: ADSL were updated from 10090474; 18830228; 6150139; 12016589; 9545543 to 12016589; 18830228; 6150139; 9545543; 10090474
DDG2P v3.11 ADRA2B Achchuthan Shanmugasundram Mode of pathogenicity for gene ADRA2B was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ADPRHL2 Achchuthan Shanmugasundram Source Expert Review Green was added to ADPRHL2.
Publications for gene: ADPRHL2 were updated from 30388405; 30401461 to 30401461; 30388405
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ADNP Achchuthan Shanmugasundram Publications for gene: ADNP were updated from 24531329 to 28475273; 29475819; 30107084; 32275126; 25169753; 28221363; 29724491; 31127536; 27031564; 24531329; 28407407
DDG2P v3.11 ADK Achchuthan Shanmugasundram Mode of pathogenicity for gene ADK was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ADCY5 Achchuthan Shanmugasundram gene: ADCY5 was added
gene: ADCY5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ADCY5 were set to ADCY5-related developmental disorder (monoallelic)
Mode of pathogenicity for gene: ADCY5 was set to Other
DDG2P v3.11 ADARB1 Achchuthan Shanmugasundram gene: ADARB1 was added
gene: ADARB1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: ADARB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADARB1 were set to 32220291
Phenotypes for gene: ADARB1 were set to ADARB1-associated Microcephaly, Intellectual Disability, and Seizures
Mode of pathogenicity for gene: ADARB1 was set to Other
DDG2P v3.11 ADAR Achchuthan Shanmugasundram Publications for gene: ADAR were updated from 23001123 to 16935814; 23001123; 17478391; 24262145; 16817193; 12916015
DDG2P v3.11 ADAMTSL2 Achchuthan Shanmugasundram gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTSL2 were set to 18677313; 21415077
Phenotypes for gene: ADAMTSL2 were set to GELEOPHYSIC DYSPLASIA 1
DDG2P v3.11 ADAMTS9 Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS9.
Mode of pathogenicity for gene ADAMTS9 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ADAMTS18 Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS18.
Publications for gene: ADAMTS18 were updated from 21862674 to 24874986; 21862674; 23818446; 22686506
Rating Changed from Red List (low evidence) to Green List (high evidence)
DDG2P v3.11 ADAM22 Achchuthan Shanmugasundram gene: ADAM22 was added
gene: ADAM22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 35373813
Phenotypes for gene: ADAM22 were set to ADAM22-associated developmental and epileptic encephalopathy
DDG2P v3.11 ADA Achchuthan Shanmugasundram Publications for gene: ADA were updated from 11807006; 8227344; 2783588; 1680289; 21228398; 980079; 8614422; 3182793; 3684597; 3475710; 8031011; 2166947; 9361033; 46025; 3839802; 9225964; 8673127 to 8227344; 9225964; 46025; 21228398; 8031011; 3684597; 3475710; 2783588; 9361033; 8673127; 11807006; 980079; 2166947; 8614422; 1680289; 3839802; 3182793
DDG2P v3.11 ACY1 Achchuthan Shanmugasundram Publications for gene: ACY1 were updated from 17562838; 16274666; 16465618 to 17562838; 16465618; 16274666
DDG2P v3.11 ACVR2B Achchuthan Shanmugasundram Mode of pathogenicity for gene ACVR2B was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ACVR1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACVR1.
Mode of pathogenicity for gene ACVR1 was changed from Other - please provide details in the comments to Other
Publications for gene: ACVR1 were updated from 19330033; 16642017; 19085907; 18203193; 18830232 to 16642017; 18830232; 19085907; 18203193; 19330033
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACTL6B Achchuthan Shanmugasundram Publications for gene: ACTL6B were updated from 28867141; 31130285 to 28867141; 30656450; 31031012; 31130285
DDG2P v3.11 ACTG1 Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTG1 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ACTB Achchuthan Shanmugasundram Publications for gene: ACTB were updated from 100000; 22366783 to 29220674; 22366783; 100000; 27625340
DDG2P v3.11 ACTA2 Achchuthan Shanmugasundram Mode of pathogenicity for gene ACTA2 was changed from Other - please provide details in the comments to Other
Publications for gene: ACTA2 were updated from to 35567597
DDG2P v3.11 ACTA1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACTA1.
Mode of pathogenicity for gene ACTA1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACSL4 Achchuthan Shanmugasundram Source Expert Review Green was added to ACSL4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACP5 Achchuthan Shanmugasundram Publications for gene: ACP5 were updated from 12786759; 21217752; 21217755; 16470600; 13524805 to 21217755; 16470600; 21217752; 12786759; 13524805
DDG2P v3.11 ACOX1 Achchuthan Shanmugasundram Publications for gene: ACOX1 were updated from 17458872; 8279468; 11815777; 2894756; 18536048 to 17458872; 2894756; 8279468; 18536048; 11815777
DDG2P v3.11 ACO2 Achchuthan Shanmugasundram Source Expert Review Green was added to ACO2.
Mode of inheritance for gene ACO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACO2 were updated from 22405087; 34056600 to 28545339; 29577077; 29564393; 22405087; 34056600; 31106992
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ACER3 Achchuthan Shanmugasundram gene: ACER3 was added
gene: ACER3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACER3 were set to 26792856; 34281620; 32816236
Phenotypes for gene: ACER3 were set to ACER3-related leukodystrophy, OMIM:617762
DDG2P v3.11 ACBD5 Achchuthan Shanmugasundram gene: ACBD5 was added
gene: ACBD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACBD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD5 were set to 23105016; 27799409; 33427402
Phenotypes for gene: ACBD5 were set to ACBD5 deficiency, OMIM:618863
DDG2P v3.11 ACAT1 Achchuthan Shanmugasundram Publications for gene: ACAT1 were updated from 1979337; 11914035; 7907600; 9700610; 4690360; 1715688; 1627655; 1346617 to 7907600; 4690360; 1715688; 1627655; 9700610; 1346617; 11914035; 1979337
DDG2P v3.11 ACADVL Achchuthan Shanmugasundram Publications for gene: ACADVL were updated from 10790204; 9709714; 7479827; 7668252; 9546340; 11158518; 8554073 to 8554073; 9546340; 9709714; 7668252; 11158518; 7479827; 10790204
DDG2P v3.11 ACADS Achchuthan Shanmugasundram Mode of pathogenicity for gene ACADS was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ACADM Achchuthan Shanmugasundram Publications for gene: ACADM were updated from 11409868; 1972503; 7603790; 11349232; 9158144; 1684086; 7929823; 6434827 to 7929823; 1684086; 6434827; 1972503; 7603790; 11409868; 11349232; 9158144
DDG2P v3.11 ABL1 Achchuthan Shanmugasundram Source Expert Review Green was added to ABL1.
Mode of pathogenicity for gene ABL1 was changed from Other - please provide details in the comments to Other
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ABHD16A Achchuthan Shanmugasundram gene: ABHD16A was added
gene: ABHD16A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to 34587489
Phenotypes for gene: ABHD16A were set to ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum
DDG2P v3.11 ABCD4 Achchuthan Shanmugasundram Source Expert Review Green was added to ABCD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 ABCD1 Achchuthan Shanmugasundram Publications for gene: ABCD1 were updated from to 7904210; 8441467; 11748843
DDG2P v3.11 ABCC9 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCC9 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ABCC6 Achchuthan Shanmugasundram Publications for gene: ABCC6 were updated from 22209248 to 10835642; 22209248; 10811882; 10835643
DDG2P v3.11 ABCB7 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB7 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ABCB6 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB6 was changed from Other - please provide details in the comments to Other
DDG2P v3.11 ABCB11 Achchuthan Shanmugasundram Publications for gene: ABCB11 were updated from 10579978; 16039748; 9806540 to 10579978; 16039748; 9806540
DDG2P v3.11 ABAT Achchuthan Shanmugasundram gene: ABAT was added
gene: ABAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABAT were set to 28411234; 27903293; 27376954
Phenotypes for gene: ABAT were set to ABAT-related GABA-transaminase Deficiency
DDG2P v3.11 AASS Achchuthan Shanmugasundram Source Expert Review Green was added to AASS.
Publications for gene: AASS were updated from 934735; 10775527 to 23570448; 10775527; 934735
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AARS Achchuthan Shanmugasundram Source Expert Review Green was added to AARS.
Publications for gene: AARS were updated from 25817015 to 25817015; 34446925
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v3.11 AAAS Achchuthan Shanmugasundram Publications for gene: AAAS were updated from 11701718; 11159947; 18628786; 15173230; 11062474 to 11701718; 11062474; 15173230; 11159947; 18628786
DDG2P v3.10 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
DDG2P v3.10 CLCNKA Sarah Leigh Phenotypes for gene: CLCNKA were changed from BARTTER SYNDROME TYPE 4B 613090 to Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
DDG2P v3.9 CLCNKA Sarah Leigh changed review comment from: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.; to: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267;32488762). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
DDG2P v3.9 CLCNKA Sarah Leigh Publications for gene: CLCNKA were set to
DDG2P v3.8 CLCNKA Sarah Leigh Tag polygenic tag was added to gene: CLCNKA.
DDG2P v3.8 CLCNKA Sarah Leigh Added comment: Comment on mode of inheritance: Digenic CLCNKA & CLCNKB variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090)(PMID: 15044642;18310267). The current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
DDG2P v3.8 CLCNKA Sarah Leigh Mode of inheritance for gene: CLCNKA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.7 SLC22A5 Sarah Leigh Tag Q3_23_MOI was removed from gene: SLC22A5.
DDG2P v3.7 SLC22A5 Sarah Leigh edited their review of gene: SLC22A5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.7 SLC22A5 Sarah Leigh changed review comment from: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
DDG2P v3.7 SLC22A5 Sarah Leigh Tag Q3_23_MOI tag was added to gene: SLC22A5.
DDG2P v3.7 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to 9916797; 10051646; 2235122; 11058897; 20027113; 9634512; 10425211; 9700603; 15714519; 10480371; 3974805
DDG2P v3.6 SLC22A5 Sarah Leigh reviewed gene: SLC22A5: Rating: ; Mode of pathogenicity: None; Publications: 10545605, 11261427; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v3.6 MAP4K4 Irina Ziravecka gene: MAP4K4 was added
gene: MAP4K4 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP4K4 were set to PMID: 37126546
Phenotypes for gene: MAP4K4 were set to neurodevelopmental differences; multiple congenital anomalies
Mode of pathogenicity for gene: MAP4K4 was set to Other
Review for gene: MAP4K4 was set to GREEN
Added comment: PMID: 37126546 - "a cohort of 26 affected individuals from 21 unrelated families with neurodevelopmental differences, cardiac issues, and CFAs who share a phenotype overlap with RASopathies and harbor a series of rare variants in MAP4K4.
Functional studies in zebrafish showed that MAP4K4 variants caused hypomorphic, LOF, or DN effects."
Sources: Literature
DDG2P v3.6 AMOTL1 Irina Ziravecka edited their review of gene: AMOTL1: Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
5 out of 16 patients in this cohort have developmental delay.; Changed phenotypes to: orofacial clefting, cardiac anomalies, tall stature, distinct dysmorphisms (abnormal head shape, craniosynostosis, hypertelorism, and large ears), myopia, hearing loss, micrognathia, immune dysfunction, scoliosis, chronic constipation, liver dysfunction, global developmental delay
DDG2P v3.6 AMOTL1 Irina Ziravecka Deleted their comment
DDG2P v3.6 AMOTL1 Irina Ziravecka changed review comment from: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
Sources: Other; to: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
5 out of 16 patients in this cohort have developmental delay.
DDG2P v3.6 AMOTL1 Irina Ziravecka gene: AMOTL1 was added
gene: AMOTL1 was added to DDG2P. Sources: Other
Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMOTL1 were set to PMID: 36751037
Phenotypes for gene: AMOTL1 were set to orofacial clefting; cardiac anomalies; tall stature
Mode of pathogenicity for gene: AMOTL1 was set to Other
Review for gene: AMOTL1 was set to GREEN
Added comment: PMID: 36751037 - this cohort suggests that heterozygous missense variants in AMOTL1, most commonly affecting amino acid residues 157–161, define a new orofacial clefting syndrome, and indicates an important functional role for this undefined region.
Sources: Other
DDG2P v3.6 ETFB Sarah Leigh Publications for gene: ETFB were set to
DDG2P v3.5 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B 231680 to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
DDG2P v3.4 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A 231680 to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
DDG2P v3.3 COASY Sarah Leigh Publications for gene: COASY were set to 24360804
DDG2P v3.2 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG: Removed the Q3_21_rating and Q3_21_expert_review tags because this STR is green on other component panels of the Paediatric disorders superpanel and so does not need to be green here.
DDG2P v3.2 DMPK_CTG Eleanor Williams Tag Q3_21_rating was removed from STR: DMPK_CTG.
Tag Q3_21_expert_review was removed from STR: DMPK_CTG.
DDG2P v3.2 Eleanor Williams Panel version 3.1 has been signed off on 2023-03-22
DDG2P v3.1 RAB11A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RAB11A.
DDG2P v3.1 CRIM1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CRIM1.
DDG2P v3.1 ASCC3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ASCC3.
DDG2P v3.1 Catherine Snow Panel version 3.0 has been signed off on 2022-11-30
DDG2P v3.0 Catherine Snow promoted panel to version 3.0
DDG2P v2.84 HNRNPR Eleanor Williams commented on gene: HNRNPR
DDG2P v2.84 HNRNPR Eleanor Williams Phenotypes for gene: HNRNPR were changed from INTELLECTUAL DISABILITY 616579 to Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073
DDG2P v2.83 HNRNPR Eleanor Williams Tag gene-checked was removed from gene: HNRNPR.
DDG2P v2.83 DDX58 Eleanor Williams commented on gene: DDX58
DDG2P v2.83 DDX58 Eleanor Williams Tag new-gene-name tag was added to gene: DDX58.
DDG2P v2.83 FAM126A Eleanor Williams commented on gene: FAM126A
DDG2P v2.83 FAM126A Eleanor Williams Tag new-gene-name tag was added to gene: FAM126A.
DDG2P v2.83 ROR2 Arina Puzriakova Phenotypes for gene: ROR2 were changed from ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700; BRACHYDACTYLY, TYPE B1 113000; ROR2-RELATED DISORDERS AR 268310 to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR)
DDG2P v2.82 TGFB1 Arina Puzriakova Phenotypes for gene: TGFB1 were changed from CAMURATI-ENGELMANN DISEASE 131300 to Camurati-Engelmann disease, OMIM:131300
DDG2P v2.81 ST3GAL3 Sarah Leigh Publications for gene: ST3GAL3 were set to 21907012; 17120046
DDG2P v2.80 ST3GAL3 Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 611090 to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612
DDG2P v2.79 KDM3B Sarah Leigh Phenotypes for gene: KDM3B were changed from Intellectual Disability, Short Stature, and Facial Dysmorphism; KDM3B-related intellectual disability, short stature and facial dysmorphism to Diets-Jongmans syndrome, OMIM:618846; Diets-Jongmans syndrome, MONDO:0030012
DDG2P v2.78 TERC Eleanor Williams commented on gene: TERC
DDG2P v2.78 RMRP Eleanor Williams commented on gene: RMRP
DDG2P v2.78 COL6A1 Eleanor Williams commented on gene: COL6A1
DDG2P v2.78 EMC1 Eleanor Williams commented on gene: EMC1
DDG2P v2.78 RAB11A Eleanor Williams commented on gene: RAB11A
DDG2P v2.78 CNKSR2 Eleanor Williams commented on gene: CNKSR2
DDG2P v2.78 TPP2 Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated shortly from that resource where it currently has a 'definitive' level of evidence.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated shortly from that resource where it currently has a 'definitive' level of evidence.
DDG2P v2.78 TPP2 Eleanor Williams commented on gene: TPP2
DDG2P v2.78 RAP1GDS1 Eleanor Williams Tag curated_removed tag was added to gene: RAP1GDS1.
DDG2P v2.78 RAP1GDS1 Eleanor Williams changed review comment from: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel.; to: This panel reflects the DD panel in the Gene2Phenotype resource and will be updated based on updates to that resource. It is not currently listed on the DD panel. The expert reviewer has also reviewed this gene on the Intellectual disability panel in PanelApp, which is part of the Paediatric disorders super panel so this gene will not be missed out of the super panel.
DDG2P v2.78 TAF4 Eleanor Williams commented on gene: TAF4
DDG2P v2.78 TAF4 Eleanor Williams Tag curated_removed tag was added to gene: TAF4.
DDG2P v2.78 TAF4 Eleanor Williams Classified gene: TAF4 as No list
DDG2P v2.78 TAF4 Eleanor Williams Gene: taf4 has been removed from the panel.
DDG2P v2.77 RPGRIP1 Eleanor Williams commented on gene: RPGRIP1
DDG2P v2.77 RASA1 Eleanor Williams commented on gene: RASA1
DDG2P v2.77 RAP1GDS1 Eleanor Williams commented on gene: RAP1GDS1
DDG2P v2.77 MYH6 Eleanor Williams changed review comment from: This gene needs further investigation as to the rating when this panel is updated from Gene2Phenotype DD panel.; to: This gene needs further investigation as to the rating when this panel is updated from Gene2Phenotype DD panel. Q3_22 tags added to flag it only.
DDG2P v2.77 MYH6 Eleanor Williams Tag Q3_22_rating tag was added to gene: MYH6.
Tag Q3_22_expert_review tag was added to gene: MYH6.
DDG2P v2.77 KPNA3 Eleanor Williams Tag curated_removed tag was added to gene: KPNA3.
DDG2P v2.77 KPNA3 Eleanor Williams Classified gene: KPNA3 as No list
DDG2P v2.77 KPNA3 Eleanor Williams Gene: kpna3 has been removed from the panel.
DDG2P v2.76 HYDIN Dmitrijs Rots reviewed gene: HYDIN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.76 PMS2 Eleanor Williams commented on gene: PMS2
DDG2P v2.76 MYH6 Eleanor Williams commented on gene: MYH6
DDG2P v2.76 KPNA3 Eleanor Williams commented on gene: KPNA3
DDG2P v2.76 DSPP Eleanor Williams commented on gene: DSPP
DDG2P v2.76 BFSP2 Eleanor Williams commented on gene: BFSP2
DDG2P v2.76 ATG7 Eleanor Williams commented on gene: ATG7
DDG2P v2.76 AR Eleanor Williams Tag Q3_22_rating tag was added to gene: AR.
Tag Q3_22_expert_review tag was added to gene: AR.
DDG2P v2.76 AR Eleanor Williams commented on gene: AR
DDG2P v2.76 XPNPEP3 Eleanor Williams commented on gene: XPNPEP3
DDG2P v2.76 XPNPEP3 Eleanor Williams Tag Q1_22_rating was removed from gene: XPNPEP3.
DDG2P v2.76 TMEM260 Eleanor Williams commented on gene: TMEM260
DDG2P v2.76 TMEM260 Eleanor Williams Tag Q4_21_rating was removed from gene: TMEM260.
DDG2P v2.76 PEX6 Eleanor Williams commented on gene: PEX6
DDG2P v2.76 PEX6 Eleanor Williams Tag Q1_22_MOI was removed from gene: PEX6.
DDG2P v2.76 FBN2 Eleanor Williams commented on gene: FBN2
DDG2P v2.76 FBN2 Eleanor Williams Tag Q2_21_MOI was removed from gene: FBN2.
DDG2P v2.76 EDNRB Eleanor Williams commented on gene: EDNRB
DDG2P v2.76 CLP1 Eleanor Williams commented on gene: CLP1
DDG2P v2.76 CLP1 Eleanor Williams Tag Q2_21_rating was removed from gene: CLP1.
DDG2P v2.76 ATAD3A Eleanor Williams Tag Q3_21_MOI was removed from gene: ATAD3A.
DDG2P v2.76 ATAD3A Eleanor Williams commented on gene: ATAD3A
DDG2P v2.76 CLTC Eleanor Williams commented on gene: CLTC
DDG2P v2.76 DMPK Eleanor Williams commented on gene: DMPK
DDG2P v2.76 CRYBB1 Eleanor Williams Tag watchlist was removed from gene: CRYBB1.
Tag Q4_21_MOI was removed from gene: CRYBB1.
DDG2P v2.76 CRYBB1 Eleanor Williams commented on gene: CRYBB1
DDG2P v2.76 ATP6V1A Eleanor Williams Tag Q3_21_rating was removed from gene: ATP6V1A.
DDG2P v2.76 ATP6V1A Eleanor Williams commented on gene: ATP6V1A
DDG2P v2.76 CLTC Anna de Burca reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: PubMed: 29100083; Phenotypes: Developmental & epileptic encephalopathies; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.76 EMC1 Dmitrijs Rots reviewed gene: EMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35234901; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.76 GBA Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
DDG2P v2.76 KIAA1109 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.
DDG2P v2.76 SKIV2L Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2.
DDG2P v2.76 TTC37 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3.
DDG2P v2.76 TTC37 Sarah Leigh Tag new-gene-name tag was added to gene: TTC37.
DDG2P v2.76 TTC37 Sarah Leigh commented on gene: TTC37
DDG2P v2.76 SKIV2L Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L.
DDG2P v2.76 SKIV2L Sarah Leigh commented on gene: SKIV2L
DDG2P v2.76 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
DDG2P v2.76 KIAA1109 Sarah Leigh commented on gene: KIAA1109
DDG2P v2.76 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
DDG2P v2.76 GBA Sarah Leigh commented on gene: GBA
DDG2P v2.76 GNAI1 Sarah Leigh Tag gene-checked was removed from gene: GNAI1.
DDG2P v2.76 ZNF526 Sarah Leigh Phenotypes for gene: ZNF526 were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877
DDG2P v2.75 SRY Eleanor Williams commented on gene: SRY
DDG2P v2.75 SRY Eleanor Williams Tag y-chromosome tag was added to gene: SRY.
DDG2P v2.75 CACNA1C Eleanor Williams Phenotypes for gene: CACNA1C were changed from TIMOTHY SYNDROME 601005 to Timothy syndrome, OMIM:601005; Timothy syndrome, MONDO:0010979; CACNA1C-related disorder
DDG2P v2.74 RPGRIP1 Dmitrijs Rots reviewed gene: RPGRIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.74 DSPP Dmitrijs Rots reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.74 BFSP2 Dmitrijs Rots reviewed gene: BFSP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.74 ACO2 Sarah Leigh Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.73 ACO2 Sarah Leigh commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed.
Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022
DDG2P v2.73 ACO2 Sarah Leigh reviewed gene: ACO2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.73 ACO2 Sarah Leigh Publications for gene: ACO2 were set to 22405087
DDG2P v2.72 FGF5 Eleanor Williams commented on gene: FGF5
DDG2P v2.72 PLCB4 Eleanor Williams commented on gene: PLCB4
DDG2P v2.72 TAZ Arina Puzriakova commented on gene: TAZ
DDG2P v2.72 TAZ Arina Puzriakova Tag new-gene-name tag was added to gene: TAZ.
DDG2P v2.72 PIH1D3 Arina Puzriakova commented on gene: PIH1D3
DDG2P v2.72 PIH1D3 Arina Puzriakova Tag new-gene-name tag was added to gene: PIH1D3.
DDG2P v2.72 IMPAD1 Arina Puzriakova commented on gene: IMPAD1
DDG2P v2.72 IMPAD1 Arina Puzriakova Tag new-gene-name tag was added to gene: IMPAD1.
DDG2P v2.72 C8orf37 Arina Puzriakova commented on gene: C8orf37
DDG2P v2.72 C8orf37 Arina Puzriakova Tag new-gene-name tag was added to gene: C8orf37.
DDG2P v2.72 SIM1 Eleanor Williams Tag gene-checked tag was added to gene: SIM1.
DDG2P v2.72 LRRC56 Eleanor Williams Tag gene-checked tag was added to gene: LRRC56.
DDG2P v2.72 WDR37 Eleanor Williams Tag gene-checked tag was added to gene: WDR37.
DDG2P v2.72 C11orf70 Eleanor Williams Tag gene-checked tag was added to gene: C11orf70.
DDG2P v2.72 MT-TP Arina Puzriakova Tag gene-checked tag was added to gene: MT-TP.
DDG2P v2.72 HNRNPR Arina Puzriakova Tag gene-checked tag was added to gene: HNRNPR.
DDG2P v2.72 GNAI1 Arina Puzriakova Tag gene-checked tag was added to gene: GNAI1.
DDG2P v2.72 GNAI1 Arina Puzriakova Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854
DDG2P v2.71 COL18A1 Sarah Leigh Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I 267750 to Knobloch syndrome, type 1, OMIM:267750
DDG2P v2.70 COL18A1 Sarah Leigh Publications for gene: COL18A1 were set to 10942434
DDG2P v2.69 PEX6 Sarah Leigh Penetrance for gene PEX6 was set from to None
DDG2P v2.68 PEX6 Sarah Leigh changed review comment from: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; to: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).
DDG2P v2.68 PEX6 Sarah Leigh Publications for gene: PEX6 were set to
DDG2P v2.67 PEX6 Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed phenotypes to: 29220678; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.67 PEX6 Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal in order to detect the dominant Peroxisome biogenesis disorder 4B. Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
DDG2P v2.67 PEX6 Sarah Leigh Mode of inheritance for gene: PEX6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.66 PEX6 Sarah Leigh Tag Q1_22_MOI tag was added to gene: PEX6.
DDG2P v2.66 PEX6 Sarah Leigh Phenotypes for gene: PEX6 were changed from ZELLWEGER SYNDROME 214100; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498 to Heimler syndrome 2, OMIM:616617; Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863
DDG2P v2.65 ANO5 Sarah Leigh reviewed gene: ANO5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.65 ALPL Sarah Leigh reviewed gene: ALPL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.65 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
DDG2P v2.63 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
DDG2P v2.62 KCNE1 Arina Puzriakova Phenotypes for gene: KCNE1 were changed from JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347; LONG QT SYNDROME-5 613695 to Jervell and Lange-Nielsen syndrome 2, OMIM:612347; Long QT syndrome 5, OMIM:613695
DDG2P v2.61 ANTXR1 Arina Puzriakova Phenotypes for gene: ANTXR1 were changed from GAPO SYNDROME to GAPO syndrome, OMIM:230740
DDG2P v2.60 XPNPEP3 Sarah Leigh Tag Q1_22_rating tag was added to gene: XPNPEP3.
DDG2P v2.60 XPNPEP3 Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356).; Changed rating: GREEN
DDG2P v2.60 XPNPEP3 Sarah Leigh Classified gene: XPNPEP3 as Amber List (moderate evidence)
DDG2P v2.60 XPNPEP3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
DDG2P v2.60 XPNPEP3 Sarah Leigh Gene: xpnpep3 has been classified as Amber List (Moderate Evidence).
DDG2P v2.59 XPNPEP3 Sarah Leigh Publications for gene: XPNPEP3 were set to 20179356
DDG2P v2.58 XPNPEP3 Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from NEPHRONOPHTHISIS-LIKE NEPHROPATHY TYPE 1 613159 to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163
DDG2P v2.57 SH3BP2 Arina Puzriakova Phenotypes for gene: SH3BP2 were changed from Cherubism to Cherubism, OMIM:118400
DDG2P v2.56 PLCG2 Arina Puzriakova Phenotypes for gene: PLCG2 were changed from FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 614468; AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED 614878 to Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878; Familial cold autoinflammatory syndrome 3, OMIM:614468
DDG2P v2.55 MYH6 Dmitrijs Rots reviewed gene: MYH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.55 TERC Dmitrijs Rots reviewed gene: TERC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.55 RMRP Dmitrijs Rots reviewed gene: RMRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.55 COL6A1 Dmitrijs Rots reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bethlem myopathy, Ulrich myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.55 PMS2 Dmitrijs Rots changed review comment from: DD is not part of the phenotype. Red on ID list.; to: DD is not part of the phenotype. Red on ID list. Other MMR deficiency genes are not in the panel.
DDG2P v2.55 PMS2 Dmitrijs Rots reviewed gene: PMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.55 AR Dmitrijs Rots reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy, Androgen insensitivity syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v2.55 TPP2 Dmitrijs Rots gene: TPP2 was added
gene: TPP2 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP2 were set to PMID: 25414442
Phenotypes for gene: TPP2 were set to Developmental delay; immunodefficiency; autoimmunity
Review for gene: TPP2 was set to GREEN
Added comment: 14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where in 9/14 DD was present, which seems to be a common feature.
Sources: Literature
DDG2P v2.55 RASA1 Dmitrijs Rots reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.55 PBX1 Eleanor Williams Classified gene: PBX1 as No list
DDG2P v2.55 PBX1 Eleanor Williams Added comment: Comment on list classification: Changing the status to Expert Review Removed, as the content of the panel is only changed when updated from DDG2P sources. The status of this gene on other panels has been checked.
DDG2P v2.55 PBX1 Eleanor Williams Gene: pbx1 has been removed from the panel.
DDG2P v2.54 PBX1 Eleanor Williams Tag curated_removed tag was added to gene: PBX1.
DDG2P v2.54 PBX1 Eleanor Williams Classified gene: PBX1 as No list
DDG2P v2.54 PBX1 Eleanor Williams Gene: pbx1 has been removed from the panel.
DDG2P v2.53 PBX1 Eleanor Williams commented on gene: PBX1
DDG2P v2.53 PBX1 Eleanor Williams Deleted their review
DDG2P v2.53 PBX1 Eleanor Williams Deleted their comment
DDG2P v2.53 PBX1 Eleanor Williams commented on gene: PBX1
DDG2P v2.53 FGF5 Anna de Burca gene: FGF5 was added
gene: FGF5 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF5 were set to PMID: 24989505
Phenotypes for gene: FGF5 were set to Hypertrichosis; long eyelashes
Penetrance for gene: FGF5 were set to Complete
Review for gene: FGF5 was set to GREEN
Added comment: Segregates with phenotype in two consanguineous families in publication attached. Additional unpublished case with same phenotype.
Sources: Literature
DDG2P v2.53 CNKSR2 Dmitrijs Rots reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34266427; Phenotypes: Developmental delay, intellectual disability, seizures; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v2.53 PBX1 Dmitrijs Rots gene: PBX1 was added
gene: PBX1 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Review for gene: PBX1 was set to GREEN
Added comment: Syndromic gene. Most of the individuals present with developmental delay, according to OMIM.
Sources: Literature
DDG2P v2.53 PHF6 Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v2.53 TARS Arina Puzriakova Tag new-gene-name tag was added to gene: TARS.
DDG2P v2.53 DMPK Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. MOI should be changed to 'Other' to maintain consistency with other panels
DDG2P v2.53 DMPK Arina Puzriakova Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v2.52 DMPK Arina Puzriakova Tag Q3_21_MOI tag was added to gene: DMPK.
DDG2P v2.52 CSTB Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
DDG2P v2.52 ATN1 Arina Puzriakova Phenotypes for gene: ATN1 were changed from congenital hypotonia, epilepsy, developmental delay, digit abnormalities to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
DDG2P v2.51 SHOX Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX.
DDG2P v2.51 EDNRB Ivone Leong Tag Q4_21_MOI tag was added to gene: EDNRB.
DDG2P v2.51 EDNRB Ivone Leong Publications for gene: EDNRB were set to 7778600
DDG2P v2.50 EDNRB Ivone Leong reviewed gene: EDNRB: Rating: ; Mode of pathogenicity: None; Publications: 7778600, 11891690; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.50 ATG7 Dmitrijs Rots gene: ATG7 was added
gene: ATG7 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to PMID:34161705
Phenotypes for gene: ATG7 were set to developmental delay; ataxia
Review for gene: ATG7 was set to GREEN
Added comment: Zornitsa Stark wrote for this gene in Ataxia panel:
"12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model. "

Should be also on ID panel.
Sources: Literature
DDG2P v2.50 RAP1GDS1 Dmitrijs Rots gene: RAP1GDS1 was added
gene: RAP1GDS1 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: RAP1GDS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAP1GDS1 were set to PMID: 33875846
Phenotypes for gene: RAP1GDS1 were set to Intellectual disability, developmental delay
Review for gene: RAP1GDS1 was set to GREEN
Added comment: Additional cases (three with same splice variant, which segregates in one family) and one frameshift variant reported in PMID: 33875846. Cases seem to overlap ones reported in PMID: 32431071.
Sources: Literature
DDG2P v2.50 RAB11A Dmitrijs Rots reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: microcephaly, brain anomalies, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.50 TAF4 Dmitrijs Rots gene: TAF4 was added
gene: TAF4 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: TAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAF4 were set to 33875846
Phenotypes for gene: TAF4 were set to Developmental delay
Penetrance for gene: TAF4 were set to unknown
Review for gene: TAF4 was set to GREEN
Added comment: From the literature:
"A heterozygous de novo variant (frameshift) was reported in TAF4 by Kosmicki et al., in a patient with autism.36 The gene has no phenotypic association in OMIM (accessed 12 October 2020). Within this study, we identified two additional de novo LoF variants (splicing and nonsense) in two unrelated patients with dysmorphic features and NDD. TAF4 is highly intolerant to LoF as documented in gnomAD (pLi = 1). Expression of TAF4 varies during development and in the processes of cell differentiation; TAF4 is detected in various regions of the human brain, and it is believed to control the differentiation of human neural progenitor cells having a role in the regulation of neural development and brain function.37 The current data suggests that TAF4 haploinsufficiency leads to NDD in humans."
Sources: Literature
DDG2P v2.50 CRYBB1 Ivone Leong Tag Q4_21_MOI tag was added to gene: CRYBB1.
DDG2P v2.50 CRYBB1 Ivone Leong reviewed gene: CRYBB1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.50 KPNA3 Dmitrijs Rots gene: KPNA3 was added
gene: KPNA3 was added to DDG2P. Sources: Literature
Mode of inheritance for gene: KPNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KPNA3 were set to PMID: 34564892
Phenotypes for gene: KPNA3 were set to Infantile onset spastic paraplegia; developmental delay
Penetrance for gene: KPNA3 were set to unknown
Mode of pathogenicity for gene: KPNA3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: KPNA3 was set to GREEN
Added comment: 8 reported families with de novo missense variants, that segregates with pure HSP with infantile onset and some functional data PMID: 34564892
Sources: Literature
DDG2P v2.50 PLCB4 Kate Downes reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22560091, PMID: 23315542, PMID: 28328130, PMID: 23913798; Phenotypes: Auriculocondylar syndrome 2 (OMIM: 614669); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.50 PRDM12 Sarah Leigh Phenotypes for gene: PRDM12 were changed from HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488 to Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488; congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662
DDG2P v2.49 ATN1 Dmitrijs Rots Deleted their review
DDG2P v2.49 ATN1 Dmitrijs Rots Deleted their comment
DDG2P v2.49 ATN1 Dmitrijs Rots reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.49 TMEM260 Sarah Leigh Tag Q4_21_rating tag was added to gene: TMEM260.
DDG2P v2.49 TMEM260 Sarah Leigh edited their review of gene: TMEM260: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517).; Changed rating: GREEN
DDG2P v2.49 TMEM260 Sarah Leigh Publications for gene: TMEM260 were set to 28318500
DDG2P v2.48 TMEM260 Sarah Leigh Phenotypes for gene: TMEM260 were changed from Neurodevelopmental, Cardiac, and Renal Syndrome to Structural heart defects and renal anomalies syndrome OMIM:617478; Structural heart defects and renal anomalies syndrome MONDO:0044321
DDG2P v2.47 TMEM260 Sarah Leigh Classified gene: TMEM260 as Amber List (moderate evidence)
DDG2P v2.47 TMEM260 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
DDG2P v2.47 TMEM260 Sarah Leigh Gene: tmem260 has been classified as Amber List (Moderate Evidence).
DDG2P v2.46 GRIK2 Ivone Leong reviewed gene: GRIK2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.46 ALG8 Sarah Leigh Added comment: Comment on mode of inheritance: Monoallelic variants are associated with Polycystic liver disease 3 with or without kidney cysts OMIM:617874, which is not relevant to this panel. Therefore biallelic moi is relevant to this panel.
DDG2P v2.46 ALG8 Sarah Leigh Mode of inheritance for gene: ALG8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.45 ALG8 Sarah Leigh Phenotypes for gene: ALG8 were changed from ALG8-CDG 237145 to Congenital disorder of glycosylation, type Ih OMIM:608104; ALG8-CDG MONDO:0011969
DDG2P v2.44 GRIN1 Sarah Leigh changed review comment from: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy, and only one biallelic case has been reported with this phenotype.; to: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1357), and only one biallelic case has been reported with this phenotype.
DDG2P v2.44 GRIN1 Sarah Leigh Deleted their comment
DDG2P v2.44 GRIN1 Sarah Leigh Added comment: Comment on phenotypes: EPILEPTIC ENCEPHALOPATHY
DDG2P v2.44 GRIN1 Sarah Leigh Phenotypes for gene: GRIN1 were changed from EPILEPTIC ENCEPHALOPATHY to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254; intellectual disability, autosomal dominant 8 MONDO:0013655
DDG2P v2.43 GRIN1 Sarah Leigh Added comment: Comment on mode of inheritance: The MOI could be changed to "both mono and biallelic" in order to agree with the MOI listed in OMIM:138249, however, this was not done on this panel, as the phenotype that is confirmed on Gen2Phen is epileptic encephalopathy, and only one biallelic case has been reported with this phenotype.
DDG2P v2.43 GRIN1 Sarah Leigh Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v2.42 GNB1 Sarah Leigh Phenotypes for gene: GNB1 were changed from Severe Neurodevelopmental Disability, Hypotonia, and Seizures to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855
DDG2P v2.41 KIF1A Arina Puzriakova Phenotypes for gene: KIF1A were changed from NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213; MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255 to NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213; NESCAV SYNDROME, 614255
DDG2P v2.40 TWIST2 Ivone Leong Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME 200110; SETLEIS SYNDROME 227260 to ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110; Focal facial dermal dysplasia 3, Setleis type, OMIM:227260
DDG2P v2.39 ZDHHC9 Ivone Leong Added comment: Comment on phenotypes: Previously:
MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799
DDG2P v2.39 ZDHHC9 Ivone Leong Phenotypes for gene: ZDHHC9 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED 300799 to Mental retardation, X-linked syndromic, Raymond type, OMIM:300799
DDG2P v2.38 WNT10B Ivone Leong Phenotypes for gene: WNT10B were changed from SPLIT-HAND/FOOT MALFORMATION TYPE 6 225300 to Split-hand/foot malformation 6, OMIM:225300
DDG2P v2.37 DMPK_CTG Arina Puzriakova Tag STR tag was added to STR: DMPK_CTG.
Tag Q3_21_rating tag was added to STR: DMPK_CTG.
Tag Q3_21_expert_review tag was added to STR: DMPK_CTG.
DDG2P v2.37 DMPK_CTG Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK gene was demoted and this STR was added to ensure that cases are appropriately captured.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
DDG2P v2.37 DMPK_CTG Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
DDG2P v2.37 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Amber List (moderate evidence)
DDG2P v2.37 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected.

Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
DDG2P v2.37 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).
DDG2P v2.36 DMPK_CTG Arina Puzriakova Entity copied from Skeletal muscle channelopathy v1.31
DDG2P v2.36 DMPK_CTG Arina Puzriakova STR: DMPK_CTG was added
STR: DMPK_CTG was added to DDG2P. Sources: Expert Review Green,Expert list
Mode of inheritance for STR: DMPK_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_CTG were set to 7825566
Phenotypes for STR: DMPK_CTG were set to Myotonic dystrophy 1, OMIM:160900
DDG2P v2.35 DMPK Arina Puzriakova Tag Q3_21_rating tag was added to gene: DMPK.
DDG2P v2.35 DMPK Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: DMPK.
Tag currently-ngs-unreportable tag was added to gene: DMPK.
DDG2P v2.35 DMPK Arina Puzriakova Classified gene: DMPK as Green List (high evidence)
DDG2P v2.35 DMPK Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene.

However, the evidence level for this expansion is high (it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1), and as DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected.
DDG2P v2.35 DMPK Arina Puzriakova Gene: dmpk has been classified as Green List (High Evidence).
DDG2P v2.34 ATP6V1A Arina Puzriakova edited their review of gene: ATP6V1A: Changed rating: GREEN; Changed publications to: 28065471, 33320377, 29668857, 32045939
DDG2P v2.34 ATP6V1A Arina Puzriakova Classified gene: ATP6V1A as Amber List (moderate evidence)
DDG2P v2.34 ATP6V1A Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
DDG2P v2.34 ATP6V1A Arina Puzriakova Gene: atp6v1a has been classified as Amber List (Moderate Evidence).
DDG2P v2.33 ATP6V1A Arina Puzriakova Tag Q2_21_rating was removed from gene: ATP6V1A.
Tag Q3_21_rating tag was added to gene: ATP6V1A.
DDG2P v2.33 ATP6V1A Arina Puzriakova Tag Q2_21_rating tag was added to gene: ATP6V1A.
DDG2P v2.33 ATP6V1A Arina Puzriakova Publications for gene: ATP6V1A were set to 28065471
DDG2P v2.32 ATP6V1A Arina Puzriakova Added comment: Comment on mode of inheritance: Despite the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of both biallelic and monoallelic variants in ATP6V1A.

As DDG2P is a component panel of the Paediatric disorders super panel, the MOI has been updated from 'Biallelic' to 'Both mono- and biallelic' to ensure that all cases are captured.
DDG2P v2.32 ATP6V1A Arina Puzriakova Mode of inheritance for gene: ATP6V1A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.31 ATP6V1A Arina Puzriakova reviewed gene: ATP6V1A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.31 ATP6V1A Arina Puzriakova Phenotypes for gene: ATP6V1A were changed from Autosomal Recessive Cutis Laxa to Autosomal Recessive Cutis Laxa (AR); Epileptic encephalopathy, infantile or early childhood, 3 (AD)
DDG2P v2.30 ATAD3A Arina Puzriakova Tag watchlist was removed from gene: ATAD3A.
Tag Q3_21_MOI tag was added to gene: ATAD3A.
DDG2P v2.30 ATAD3A Arina Puzriakova Added comment: Comment on mode of inheritance: Although the MOI has been set to 'Monoallelic' only, to reflect the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of biallelic variants in ATAD3A.

As DDG2P is a component panel of the Paediatric disorders super panel, the MOI should be updated to 'Both mono- and biallelic' to ensure that all cases are captured.
DDG2P v2.30 ATAD3A Arina Puzriakova Mode of inheritance for gene: ATAD3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v2.29 DMPK Dmitrijs Rots changed review comment from: Causes myotinic dystonia only due to STR expansion, not SNVs.; to: Causes myotinic dystrophy only due to STR expansion, not SNVs.
DDG2P v2.29 DMPK Dmitrijs Rots reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v2.29 SCN8A Arina Puzriakova Phenotypes for gene: SCN8A were changed from COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA 614306; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 614558 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558
DDG2P v2.28 POLR3B Arina Puzriakova Phenotypes for gene: POLR3B were changed from LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Autosomal recessive mental retardation; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; POLR3B-related neurodevelopmental disorder
DDG2P v2.27 FBN2 Sarah Leigh commented on gene: FBN2: It would appear from PMIDs 33571691, 25558065 & 28383543 that biallelic variants should be considered for this gene and as such the MOI should be changed to BOTH monallelic and biallelic, autosomal or pseudoautosomal.
DDG2P v2.27 FBN2 Sarah Leigh reviewed gene: FBN2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v2.27 FBN2 Sarah Leigh Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY 121050 to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
DDG2P v2.26 FBN2 Sarah Leigh Publications for gene: FBN2 were set to 10797416; 11281275; 9199560; 8900230; 9737771; 20799338; 9106527
DDG2P v2.25 FBN2 Sarah Leigh Tag Q2_21_MOI tag was added to gene: FBN2.
DDG2P v2.25 EBF3 Sarah Leigh Added comment: Comment on phenotypes: Intellectual Disability, Ataxia, and Facial Dysmorphism
DDG2P v2.25 EBF3 Sarah Leigh Phenotypes for gene: EBF3 were changed from Intellectual Disability, Ataxia, and Facial Dysmorphism to Hypotonia, ataxia, and delayed development syndrome OMIM:617330; hypotonia, ataxia, and delayed development syndrome MONDO:0015021
DDG2P v2.24 CLN5 Sarah Leigh Phenotypes for gene: CLN5 were changed from NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
DDG2P v2.23 BBS1 Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 209900 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
DDG2P v2.22 ADPRHL2 Sarah Leigh Added comment: Comment on phenotypes: Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome;Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy
DDG2P v2.22 ADPRHL2 Sarah Leigh Phenotypes for gene: ADPRHL2 were changed from Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy to Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170; neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095
DDG2P v2.21 TTC25 Catherine Snow Tag new-gene-name tag was added to gene: TTC25.
DDG2P v2.21 TTC25 Catherine Snow commented on gene: TTC25
DDG2P v2.21 CCDC151 Catherine Snow Tag new-gene-name tag was added to gene: CCDC151.
DDG2P v2.21 CCDC151 Catherine Snow commented on gene: CCDC151
DDG2P v2.21 ARMC4 Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
DDG2P v2.21 ARMC4 Catherine Snow commented on gene: ARMC4
DDG2P v2.21 CCDC114 Catherine Snow Tag new-gene-name tag was added to gene: CCDC114.
DDG2P v2.21 CCDC114 Catherine Snow commented on gene: CCDC114
DDG2P v2.21 C12orf65 Catherine Snow Tag new-gene-name tag was added to gene: C12orf65.
DDG2P v2.21 C12orf65 Catherine Snow commented on gene: C12orf65
DDG2P v2.21 LRRC6 Catherine Snow Tag new-gene-name tag was added to gene: LRRC6.
DDG2P v2.21 LRRC6 Catherine Snow commented on gene: LRRC6
DDG2P v2.21 CLP1 Sarah Leigh Publications for gene: CLP1 were set to 24766809
DDG2P v2.20 CLP1 Sarah Leigh Classified gene: CLP1 as Amber List (moderate evidence)
DDG2P v2.20 CLP1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
DDG2P v2.20 CLP1 Sarah Leigh Gene: clp1 has been classified as Amber List (Moderate Evidence).
DDG2P v2.19 CLP1 Sarah Leigh Tag Q2_21_rating tag was added to gene: CLP1.
DDG2P v2.19 CLP1 Sarah Leigh reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
DDG2P v2.19 CLP1 Sarah Leigh Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803 to Pontocerebellar hypoplasia 10 OMIM:615803; Pontocerebellar hypoplasia type 10 MONDO:0014349
DDG2P v2.18 CLP1 Sarah Leigh Tag founder-effect tag was added to gene: CLP1.
DDG2P v2.18 ABCC9 Arina Puzriakova commented on gene: ABCC9
DDG2P v2.18 TRAPPC12 Arina Puzriakova Mode of inheritance for gene: TRAPPC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.17 KIF14 Arina Puzriakova Mode of inheritance for gene: KIF14 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.16 H3F3A Arina Puzriakova Publications for gene: H3F3A were set to
DDG2P v2.15 H3F3A Arina Puzriakova Classified gene: H3F3A as Green List (high evidence)
DDG2P v2.15 H3F3A Arina Puzriakova Added comment: Comment on list classification: Changed rating to Green as H3F3A is listed in Gene2Phenotype under the new gene name, H3-3A.

Associated with 'Craniofacial with neurodevelopment disorders' with a disease confidence rating of 'confirmed'
DDG2P v2.15 H3F3A Arina Puzriakova Gene: h3f3a has been classified as Green List (High Evidence).
DDG2P v2.14 H3F3A Arina Puzriakova commented on gene: H3F3A
DDG2P v2.14 H3F3A Arina Puzriakova Tag new-gene-name tag was added to gene: H3F3A.
DDG2P v2.14 AASS Arina Puzriakova Phenotypes for gene: AASS were changed from HYPERLYSINEMIA 238700 to Hyperlysinemia, OMIM:238700; Hyperlysinemia (disease), MONDO:0009388
DDG2P v2.13 SOX3 Arina Puzriakova Phenotypes for gene: SOX3 were changed from MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY 300123; SEX REVERSAL TYPE 3 300833 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
DDG2P v2.12 PIGQ Sarah Leigh Added comment: Comment on phenotypes: According to Joanna Peas-Welch (OMIM), Multiple congenital anomalies-hypotonia-seizures syndrome-4 (MCAHS4) will replace Epileptic encephalopathy, early infantile, 77, 618548 as the name for this phenotype (12/11/2020).
DDG2P v2.12 PIGQ Sarah Leigh Phenotypes for gene: PIGQ were changed from SEVERE EARLY-ONSET EPILEPSY to Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548
DDG2P v2.11 MFSD2A Arina Puzriakova Phenotypes for gene: MFSD2A were changed from MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 616486 to Microcephaly 15, primary, autosomal recessive, 616486
DDG2P v2.10 RINT1 Dmitrijs Rots Deleted their review
DDG2P v2.10 RINT1 Dmitrijs Rots reviewed gene: RINT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31204009; Phenotypes: liver failure, short stature, skeletal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
DDG2P v2.10 CEP104 Arina Puzriakova Phenotypes for gene: CEP104 were changed from JOUBERT SYNDROME 614615 to Joubert syndrome 25, 616781
DDG2P v2.9 ABCC9 Tracy Lester reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 31575858; Phenotypes: mild ID, similar facies, myopathy, cerebral white matter hyperintensities, cardiac systolic dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v2.9 SLC12A6 Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
DDG2P v2.9 SLC12A6 Sarah Leigh Deleted their comment
DDG2P v2.9 SLC12A6 Sarah Leigh commented on gene: SLC12A6: Associated with Agenesis of the corpus callosum with peripheral neuropathy 218000 in OMIM and as confirmed Gen2Phen gene. At least 10 biallelic variants were reported in at least 10 unrelated cases. 9/10 of these variants was terminating (PMID 12368912, 16606917, 17893295). Three de novo heterozygous missense variants have been identified in four unrelated cases with a milder phenotype of early- onset progressive Charcot- Marie-tooth disease (CMT) with or without spasticity (intermediate CMT)(PMID 31439721, 27485015). The authors of PMID 31439721 suggest that "autosomal- dominant inheritance of SLC12A6 variants also needs to be considered in patients with early- onset neuropathies". Furthermore, it will be important to understand the functional differences between the variants, as PMID 27485015 reported variant - p.Thr991Ala, resulted in increased potassium influx in Xenopus oocytes (gain-of-function), while the other missense variants identified so far had a loss-of-function effect in varying degrees (PMID 31439721).
DDG2P v2.9 SLC12A6 Sarah Leigh Added comment: Comment on publications: 12368912;31439721;27485015;16606917;17893295;21628467
DDG2P v2.9 SLC12A6 Sarah Leigh Publications for gene: SLC12A6 were set to 17893295; 16606917; 21628467; 12368912
DDG2P v2.8 RNF113A Sarah Leigh Tag Skewed X-inactivation tag was added to gene: RNF113A.
DDG2P v2.8 PIGA Sarah Leigh Tag Skewed X-inactivation tag was added to gene: PIGA.
DDG2P v2.8 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
DDG2P v2.8 KMT2E Rebecca Foulger Added comment: Comment on phenotypes: Removed MIM ID 616579 from phenotype field, as MIM:616579 is associated with a different gene (CHAMP1).
DDG2P v2.8 KMT2E Rebecca Foulger Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY 616579; Neurodevelopmental disorder and Epilepsy 618512 to INTELLECTUAL DISABILITY; Neurodevelopmental disorder and Epilepsy 618512
DDG2P v2.7 GNAI1 Rebecca Foulger Publications for gene: GNAI1 were set to
DDG2P v2.6 CNOT3 Rebecca Foulger Publications for gene: CNOT3 were set to
DDG2P v2.5 WDR34 Catherine Snow Tag new-gene-name tag was added to gene: WDR34.
DDG2P v2.5 WDR34 Catherine Snow commented on gene: WDR34
DDG2P v2.5 WDR60 Catherine Snow commented on gene: WDR60
DDG2P v2.5 WDR60 Catherine Snow Tag new-gene-name tag was added to gene: WDR60.
DDG2P v2.5 CDK8 Rebecca Foulger Phenotypes for gene: CDK8 were changed from SYNDROMIC INTELLECTUAL DISABILITY 612100 to SYNDROMIC INTELLECTUAL DISABILITY
DDG2P v2.3 Rebecca Foulger Panel version has been signed off
DDG2P v2.2 Rebecca Foulger Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off
DDG2P v2.0 ADPRHL2 Louise Daugherty Tag new-gene-name tag was added to gene: ADPRHL2.
DDG2P v2.0 ADPRHL2 Louise Daugherty commented on gene: ADPRHL2
DDG2P v2.0 Rebecca Foulger promoted panel to version 2.0
DDG2P v1.181 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
DDG2P v1.180 SHOX Rebecca Foulger changed review comment from: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.; to: Due to a Gene2Phenotype update, the current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.
DDG2P v1.180 SHOX Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
DDG2P v1.180 SHOX Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
DDG2P v1.179 SHOX Rebecca Foulger commented on gene: SHOX: Current G2P MOI is hemizygous for LANGER MESOMELIC DYSPLASIA, and x-linked dominant for LERI-WEILL DYSCHONDROSTEOSIS. Kept PanelApp MOI as BOTH monoallelic and biallelic, based on gene location in Pseudoautosomal region.
DDG2P v1.177 Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
DDG2P v1.175 EDAR Rebecca Foulger Added comment: Comment on phenotypes: Added new DDG2P disorder to phenotypes: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;Ectodermal dysplasia 10B. DDG2P rating: confirmed. Allelic requirement: monoallelic. Mutation consequence: dominant negative.
DDG2P v1.175 EDAR Rebecca Foulger Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive to ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
DDG2P v1.174 EDAR Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'BIALLELIC' to 'BOTH AD+AR' to match recent DDG2P update, and to be consistent with OMIM.
DDG2P v1.174 EDAR Rebecca Foulger Mode of inheritance for gene: EDAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.173 USP7 Rebecca Foulger Classified gene: USP7 as Amber List (moderate evidence)
DDG2P v1.173 USP7 Rebecca Foulger Gene: usp7 has been classified as Amber List (Moderate Evidence).
DDG2P v1.172 USP7 Rebecca Foulger Phenotypes for gene: USP7 were changed from Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism to USP7-related developmental disorder (monoallelic); Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism
DDG2P v1.171 USP7 Rebecca Foulger Tag watchlist tag was added to gene: USP7.
DDG2P v1.171 USP7 Rebecca Foulger commented on gene: USP7: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.171 USP7 Rebecca Foulger commented on gene: USP7: Updated rating from Red to Amber to match current DDG2P ratings:
probable for USP7-related developmental disorder (monoallelic): monoallelic, loss of function.
possible for Intellectual disability, autism, epilepsy, aggressive behaviour, hypotonia, and hypogonadism: no MOI, no MOP.
DDG2P v1.171 SMAD4 Rebecca Foulger commented on gene: SMAD4: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.171 SMAD4 Rebecca Foulger Tag watchlist tag was added to gene: SMAD4.
DDG2P v1.171 SCN11A Rebecca Foulger Tag watchlist tag was added to gene: SCN11A.
DDG2P v1.171 NUP107 Rebecca Foulger Tag watchlist tag was added to gene: NUP107.
DDG2P v1.171 NUP107 Rebecca Foulger commented on gene: NUP107: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.171 KDM6B Rebecca Foulger Mode of pathogenicity for gene: KDM6B was changed from Other - please provide details in the comments to None
DDG2P v1.170 KDM6B Rebecca Foulger Phenotypes for gene: KDM6B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; KDM6B-related developmental disorder (monoallelic)
DDG2P v1.169 KDM6B Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from BIALLELIC to MONOALLELIC to match MOI of disorder with highest rating (KDM6B-related developmental disorder (monoallelic)).
DDG2P v1.169 KDM6B Rebecca Foulger Mode of inheritance for gene: KDM6B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.168 KDM6B Rebecca Foulger Classified gene: KDM6B as Amber List (moderate evidence)
DDG2P v1.168 KDM6B Rebecca Foulger Gene: kdm6b has been classified as Amber List (Moderate Evidence).
DDG2P v1.167 KDM6B Rebecca Foulger commented on gene: KDM6B: Updated rating from Red to Amber to match current DDG2P ratings:
DDG2P rating of probable for KDM6B-related developmental disorder (monoallelic): monoallelic, loss of function.
DDG2P rating of possible for AUTOSOMAL RECESSIVE MENTAL RETARDATION: biallelic, all missense/in frame.
DDG2P v1.167 FBN1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both monoallelic and biallelic' to 'MONOALLELIC' to match current DDG2P Allelic requirement, which is 'monoallelic' for confirmed MARFAN SYNDROME, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, and MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE.
DDG2P v1.167 FBN1 Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.166 EMC1 Rebecca Foulger Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. to Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.; Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic; Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic
DDG2P v1.165 EMC1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH Monoallelic and biallelic' to just 'BIALLELIC' to match MOI of highest rated disorder (Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic).
DDG2P v1.165 EMC1 Rebecca Foulger Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.164 EMC1 Rebecca Foulger commented on gene: EMC1: As of November 26th 2019, DDG2P ratings are:
probable for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic (biallelic, loss of function).
possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic (monoallelic, dominant negative).
possible for Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy (monoallelic, dominant negative.
DDG2P v1.164 CUL3 Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Red to Green to match current probable rating in DDG2P for CUL3-related developmental disorder (monoallelic). Allelic requirement: monoallelic. Mutation consequence: loss of function.; to: Comment on list classification: Updated rating from Red to Amber to match current probable rating in DDG2P for CUL3-related developmental disorder (monoallelic). Allelic requirement: monoallelic. Mutation consequence: loss of function.
DDG2P v1.164 CUL3 Rebecca Foulger Classified gene: CUL3 as Amber List (moderate evidence)
DDG2P v1.164 CUL3 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green to match current probable rating in DDG2P for CUL3-related developmental disorder (monoallelic). Allelic requirement: monoallelic. Mutation consequence: loss of function.
DDG2P v1.164 CUL3 Rebecca Foulger Gene: cul3 has been classified as Amber List (Moderate Evidence).
DDG2P v1.163 CUL3 Rebecca Foulger Phenotypes for gene: CUL3 were changed from CUL3 associated autism spectrum disorder to CUL3-related developmental disorder (monoallelic)
DDG2P v1.162 CRYBB1 Rebecca Foulger changed review comment from: As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function); to: As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES (biallelic, loss of function)
DDG2P v1.162 CRYBB1 Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC to CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC
DDG2P v1.161 CRYBB1 Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 611544 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, BIALLELIC
DDG2P v1.160 CRYBB1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'BOTH MONOALLELIC AND BIALLELIC' to 'MONOALLELIC only, to match MOI of confirmed disorder (CATARACT 17, MULTIPLE TYPES, MONOALLELIC).
DDG2P v1.160 CRYBB1 Rebecca Foulger Mode of inheritance for gene: CRYBB1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.159 CRYBB1 Rebecca Foulger Tag watchlist tag was added to gene: CRYBB1.
DDG2P v1.159 CRYBB1 Rebecca Foulger commented on gene: CRYBB1: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.159 CRYBB1 Rebecca Foulger commented on gene: CRYBB1: As of November 26th 2019:
DDG2P rating confirmed for CATARACT 17, MULTIPLE TYPES, MONOALLELIC (monoallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P rating probable for CATARACT 17, MULTIPLE TYPES, BIALLELIC (biallelic, loss of function)
DDG2P v1.159 COMP Rebecca Foulger commented on gene: COMP: As of November 26th 2019:
DDG2P rating confirmed for PSEUDOACHONDROPLASIA (monoallelic, dominant negative).
DDG2P rating possible for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 (monoallelic, dominant negative).
Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.159 COMP Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorers: dominant negative ; to: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: dominant negative
DDG2P v1.159 COMP Rebecca Foulger Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170
DDG2P v1.158 COMP Rebecca Foulger Tag watchlist tag was added to gene: COMP.
DDG2P v1.158 CACNA1G Rebecca Foulger commented on gene: CACNA1G: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.158 CACNA1G Rebecca Foulger Tag watchlist tag was added to gene: CACNA1G.
DDG2P v1.158 CACNA1G Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from BIALLELIC to MONOALLELIC to reflect MOI of the disorder with the highest disease confidence (CACNA1G-related developmental disorder (monoallelic).
DDG2P v1.158 CACNA1G Rebecca Foulger Mode of inheritance for gene: CACNA1G was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.157 CACNA1G Rebecca Foulger Classified gene: CACNA1G as Amber List (moderate evidence)
DDG2P v1.157 CACNA1G Rebecca Foulger Added comment: Comment on list classification: Updated from Red to Amber for new disorder: CACNA1G-related developmental disorder (monoallelic). G2P Disease confidence: probable. G2P allelic requirement: monoallelic. G2P mutation consequence:loss of function.
DDG2P v1.157 CACNA1G Rebecca Foulger Gene: cacna1g has been classified as Amber List (Moderate Evidence).
DDG2P v1.156 CACNA1G Rebecca Foulger changed review comment from: Original DDG2P rating: possible. ; to: Original DDG2P rating for AUTOSOMAL RECESSIVE MENTAL RETARDATION: possible. Allelic requirement: biallelic. Mutation consequence: loss of function.
DDG2P v1.156 CACNA1G Rebecca Foulger Phenotypes for gene: CACNA1G were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION to AUTOSOMAL RECESSIVE MENTAL RETARDATION; CACNA1G-related developmental disorder (monoallelic)
DDG2P v1.155 CACNA1E Rebecca Foulger commented on gene: CACNA1E: Added 'watchlist' tag to highlight different G2P ratings for different disorders.
DDG2P v1.155 CACNA1E Rebecca Foulger Tag watchlist tag was added to gene: CACNA1E.
DDG2P v1.155 ACTL6B Rebecca Foulger Tag watchlist tag was added to gene: ACTL6B.
DDG2P v1.154 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'both MONOALLELIC and BIALLELIC' to just 'MONOALLELIC' to match the Monoallelic MOI of SIM1 on the 'Severe early-onset obesity' panel v2.0.
DDG2P v1.154 SIM1 Rebecca Foulger Mode of inheritance for gene: SIM1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.153 GJB2 Rebecca Foulger Classified gene: GJB2 as No list
DDG2P v1.153 GJB2 Rebecca Foulger Added comment: Comment on list classification: Removed GJB2 from the DDG2P panel, because all gene:disease associations (5 confirmed diseases) have been removed from Gene2Phenotype in October 2019.
DDG2P v1.153 GJB2 Rebecca Foulger Gene: gjb2 has been removed from the panel.
DDG2P v1.153 GJB2 Rebecca Foulger Classified gene: GJB2 as No list
DDG2P v1.153 GJB2 Rebecca Foulger Added comment: Comment on list classification: Removed GJB2 from the DDG2P panel, because all gene:disease associations (5 confirmed diseases) have been removed from Gene2Phenotype in October 2019.
DDG2P v1.153 GJB2 Rebecca Foulger Gene: gjb2 has been removed from the panel.
DDG2P v1.152 WDR4 Rebecca Foulger reviewed gene: WDR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 WDFY3 Rebecca Foulger reviewed gene: WDFY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 TPRKB Rebecca Foulger reviewed gene: TPRKB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 TP53RK Rebecca Foulger reviewed gene: TP53RK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 SMPD4 Rebecca Foulger reviewed gene: SMPD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 NUP133 Rebecca Foulger reviewed gene: NUP133: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 NPM1 Rebecca Foulger reviewed gene: NPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 MYRF Rebecca Foulger reviewed gene: MYRF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 METTL5 Rebecca Foulger reviewed gene: METTL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 MESD Rebecca Foulger reviewed gene: MESD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 MAB21L1 Rebecca Foulger reviewed gene: MAB21L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 LINGO1 Rebecca Foulger reviewed gene: LINGO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 LAGE3 Rebecca Foulger reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 KIF14 Rebecca Foulger reviewed gene: KIF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 KCNT2 Rebecca Foulger reviewed gene: KCNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 KCNA4 Rebecca Foulger reviewed gene: KCNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 GRIA4 Rebecca Foulger reviewed gene: GRIA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 DEGS1 Rebecca Foulger reviewed gene: DEGS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 DACT1 Rebecca Foulger reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 CDH2 Rebecca Foulger reviewed gene: CDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.152 APC2 Rebecca Foulger reviewed gene: APC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.151 WDR4 Rebecca Foulger gene: WDR4 was added
gene: WDR4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR4 were set to 30079490
Phenotypes for gene: WDR4 were set to GALLOWAY-MOWAT SYNDROME 6, 618347
DDG2P v1.151 WDFY3 Rebecca Foulger gene: WDFY3 was added
gene: WDFY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WDFY3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDFY3 were set to 31327001
Phenotypes for gene: WDFY3 were set to Primary Microcephaly or macrocephaly with developmental delay
DDG2P v1.151 TPRKB Rebecca Foulger gene: TPRKB was added
gene: TPRKB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: TPRKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPRKB were set to 28805828
Phenotypes for gene: TPRKB were set to GALLOWAY-MOWAT SYNDROME 5, 617731
Mode of pathogenicity for gene: TPRKB was set to Other - please provide details in the comments
DDG2P v1.151 TP53RK Rebecca Foulger gene: TP53RK was added
gene: TP53RK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TP53RK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP53RK were set to 30053862; 28805828
Phenotypes for gene: TP53RK were set to GALLOWAY-MOWAT SYNDROME 4, 617730
DDG2P v1.151 SMPD4 Rebecca Foulger gene: SMPD4 was added
gene: SMPD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMPD4 were set to 31495489
Phenotypes for gene: SMPD4 were set to Developmental Disorder with Microcephaly and Congenital Arthrogryposis
DDG2P v1.151 NUP133 Rebecca Foulger gene: NUP133 was added
gene: NUP133 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NUP133 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP133 were set to 30427554
Phenotypes for gene: NUP133 were set to GALLOWAY-MOWAT SYNDROME 8, 618349
DDG2P v1.151 NPM1 Rebecca Foulger gene: NPM1 was added
gene: NPM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NPM1 were set to 31570891
Phenotypes for gene: NPM1 were set to Dyskeratosis Congenita
Mode of pathogenicity for gene: NPM1 was set to Other - please provide details in the comments
DDG2P v1.151 MYRF Rebecca Foulger gene: MYRF was added
gene: MYRF was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYRF were set to 31069960; 29446546; 30532227; 30070761
Phenotypes for gene: MYRF were set to Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome
DDG2P v1.151 METTL5 Rebecca Foulger gene: METTL5 was added
gene: METTL5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: METTL5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: METTL5 were set to 31564433
Phenotypes for gene: METTL5 were set to Autosomal-Recessive Intellectual Disability and Microcephaly
DDG2P v1.151 MESD Rebecca Foulger gene: MESD was added
gene: MESD was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MESD were set to 31564437
Phenotypes for gene: MESD were set to OSTEOGENESIS IMPERFECTA
DDG2P v1.151 MAB21L1 Rebecca Foulger gene: MAB21L1 was added
gene: MAB21L1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 27103078; 30487245
Phenotypes for gene: MAB21L1 were set to Cerebello-Oculo-Facio-Genital syndrome
DDG2P v1.151 LINGO1 Rebecca Foulger gene: LINGO1 was added
gene: LINGO1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LINGO1 were set to 28837161
Phenotypes for gene: LINGO1 were set to LINGO1 related intellectual disability with microcephaly, speech and motor delay
DDG2P v1.151 LAGE3 Rebecca Foulger gene: LAGE3 was added
gene: LAGE3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 28805828
Phenotypes for gene: LAGE3 were set to GALLOWAY-MOWAT SYNDROME 2, 301006
Mode of pathogenicity for gene: LAGE3 was set to Other - please provide details in the comments
DDG2P v1.151 KIF14 Rebecca Foulger gene: KIF14 was added
gene: KIF14 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KIF14 was set to
Publications for gene: KIF14 were set to 24128419; 28892560
Phenotypes for gene: KIF14 were set to Severe microcephaly and short stature
DDG2P v1.151 KCNT2 Rebecca Foulger gene: KCNT2 was added
gene: KCNT2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KCNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNT2 were set to 29740868
Phenotypes for gene: KCNT2 were set to Developmental and infantile epileptic encephalopathy
Mode of pathogenicity for gene: KCNT2 was set to Other - please provide details in the comments
DDG2P v1.151 KCNA4 Rebecca Foulger gene: KCNA4 was added
gene: KCNA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: KCNA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNA4 were set to KCN4 related abnormal striatum, congenital cataract and intellectual disability.
Mode of pathogenicity for gene: KCNA4 was set to Other - please provide details in the comments
DDG2P v1.151 GRIA4 Rebecca Foulger gene: GRIA4 was added
gene: GRIA4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: GRIA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRIA4 were set to 29220673
Phenotypes for gene: GRIA4 were set to NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864
Mode of pathogenicity for gene: GRIA4 was set to Other - please provide details in the comments
DDG2P v1.151 DEGS1 Rebecca Foulger gene: DEGS1 was added
gene: DEGS1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DEGS1 were set to 31186544; 30620337
Phenotypes for gene: DEGS1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 18, 618404
DDG2P v1.151 DACT1 Rebecca Foulger gene: DACT1 was added
gene: DACT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: DACT1 was set to
Publications for gene: DACT1 were set to 28054444; 22610794
Phenotypes for gene: DACT1 were set to Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems
DDG2P v1.151 CDH2 Rebecca Foulger gene: CDH2 was added
gene: CDH2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 31650526; 31585109
Phenotypes for gene: CDH2 were set to Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
Mode of pathogenicity for gene: CDH2 was set to Other - please provide details in the comments
DDG2P v1.151 APC2 Rebecca Foulger gene: APC2 was added
gene: APC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
DDG2P v1.150 NUP107 Rebecca Foulger Phenotypes for gene: NUP107 were changed from EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME to GALLOWAY-MOWAT SYNDROME 7, 618348; EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME
DDG2P v1.149 NUP107 Rebecca Foulger Publications for gene: NUP107 were set to 26411495
DDG2P v1.148 NUP107 Rebecca Foulger commented on gene: NUP107: New gene:disorder association added to DDG2P October 2019: GALLOWAY-MOWAT SYNDROME 7, 618348. G2P Allelic requirement: biallelic. G2P Mutation consequence: loss of function. G2P Disease confidence rating: possible.
DDG2P v1.148 NUP107 Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME: confirmed. DDG2P Mutation consequence: loss of function. DDG2P Allelic requirement: biallelic.
DDG2P v1.148 CIC Rebecca Foulger changed review comment from: Original DDG2P rating: possible. DDG2P mode of pathogenicity: uncertain ; to: Original DDG2P rating for CAPICUA, DROSOPHILA, HOMOLOG OF: possible. DDG2P mode of pathogenicity: uncertain. Allelic requirement: monoallelic.
DDG2P v1.148 CIC Rebecca Foulger changed review comment from: Comment on mode of pathogenicity: Changed MOP to default LOF to match current Mutation consequence in Gene2Phenotype of 'Loss of Function'.; to: Comment on mode of pathogenicity: Changed MOP to default LOF to match Gene2Phenotype update: current Mutation consequence in Gene2Phenotype is 'Loss of Function'.
DDG2P v1.148 CIC Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP to default LOF to match current Mutation consequence in Gene2Phenotype of 'Loss of Function'.
DDG2P v1.148 CIC Rebecca Foulger Mode of pathogenicity for gene: CIC was changed from Other - please provide details in the comments to None
DDG2P v1.147 CIC Rebecca Foulger Classified gene: CIC as Amber List (moderate evidence)
DDG2P v1.147 CIC Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following a change in G2P Disease confidence from possible to probable for 'CAPICUA, DROSOPHILA, HOMOLOG OF'.
DDG2P v1.147 CIC Rebecca Foulger Gene: cic has been classified as Amber List (Moderate Evidence).
DDG2P v1.146 FAM58A Rebecca Foulger commented on gene: FAM58A: The Gene2Phenotype allelic requirement for STAR SYNDROME has been updated to x-linked dominant, to match the recent update in PanelApp.
DDG2P v1.146 AMER1 Rebecca Foulger commented on gene: AMER1: The Gene2Phenotype allelic requirement for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS has been updated to x-linked dominant, to match the recent update in PanelApp.
DDG2P v1.146 ACTL6B Rebecca Foulger Added comment: Comment on phenotypes: Removed 'Unspecified Neurodevelopmental Disorder' from phenotypes to match G2P update.
DDG2P v1.146 ACTL6B Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
DDG2P v1.145 SLC35A2 Rebecca Foulger Phenotypes for gene: SLC35A2 were changed from CONGENITAL DISORDER OF GLYCOSYLATION to Epileptic Encephalopathy due to congenital disorder of glycosylation
DDG2P v1.144 SLC35A2 Rebecca Foulger Publications for gene: SLC35A2 were set to
DDG2P v1.143 AMER1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from Monoallelic to X-linked dominant to match other PanelApp panels. Although the Gene2Phenotype inheritance is currently listed as monoallelic, AMER1 is an X-linked gene.
DDG2P v1.143 AMER1 Rebecca Foulger Mode of inheritance for gene: AMER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.142 AMER1 Rebecca Foulger changed review comment from: Original DDG2P rating: both DD and IF. ; to: Original DDG2P rating: both DD and IF for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS. Allelic requirement: monoallelic. Mutation consequence: loss of function.
DDG2P v1.142 FAM58A Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to X-linked dominant. Although monoallelic inheritance is currently listed in DDG2P for STAR SYNDROME, FAM58A is an X-linked gene.
DDG2P v1.142 FAM58A Rebecca Foulger Mode of inheritance for gene: FAM58A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.141 FAM58A Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. Gene symbol used in Original DD-G2P gene list is CCNQ.; to: Original DDG2P rating: confirmed for STAR SYNDROME. Gene symbol used in Original DD-G2P gene list is CCNQ. DDG2P allelic requirement: monoallelic. Mutation consequence: loss of function.
DDG2P v1.141 DCX Rebecca Foulger Mode of inheritance for gene: DCX was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.140 CASK Rebecca Foulger Mode of inheritance for gene: CASK was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.139 STAG2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from XLD to XLR to match 'hemizygous' allelic requirement in Gene2Phenotype.
DDG2P v1.139 STAG2 Rebecca Foulger Mode of inheritance for gene: STAG2 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v1.138 SLC35A2 Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating: confirmed for Epileptic Encephalopathy due to congenital disorder of glycosylation. DDG2P Allelic requirement: x-linked dominant. DDG2P mutation consequence: loss of function.
DDG2P v1.138 SLC35A2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed mode of inheritance to XLD to match Gene2Phenotype.
DDG2P v1.138 SLC35A2 Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.137 SOX11 Rebecca Foulger commented on gene: SOX11: The rating of genes on the DDG2P panel directly reflects the Gene2Phenotype Disease confidence. Therefore I have added SOX11 to the panel 'Paediatric disorders - additional genes' as a Green gene based on the review by Alisdair McNeil, so that SOX11 will feature as a Green gene on the 'Paediatric disorders' Super panel.
DDG2P v1.137 AIFM1 Rebecca Foulger Phenotypes for gene: AIFM1 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 319521; COWCHOCK SYNDROME to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816; COWCHOCK SYNDROME 310490
DDG2P v1.136 SMAD4 Rebecca Foulger Phenotypes for gene: SMAD4 were changed from JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 to JUVENILE POLYPOSIS SYNDROME 174900; MYHRE SYNDROME 139210; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050
DDG2P v1.135 ALX4 Rebecca Foulger Phenotypes for gene: ALX4 were changed from PARIETAL FORAMINA 2 221704; FRONTONASAL DYSPLASIA 2 605420 to PARIETAL FORAMINA 2 609597; FRONTONASAL DYSPLASIA 2 613451
DDG2P v1.134 SALL4 Rebecca Foulger Phenotypes for gene: SALL4 were changed from ACRO-RENAL-OCULAR SYNDROME 217001; DUANE-RADIAL RAY SYNDROME 173212 to ACRO-RENAL-OCULAR SYNDROME 607323; DUANE-RADIAL RAY SYNDROME 607323
DDG2P v1.133 COG4 Rebecca Foulger Phenotypes for gene: COG4 were changed from COG4-CDG 319493; Saul-Wilson syndrome to COG4-CDG 319493; Saul-Wilson syndrome 618150
DDG2P v1.132 ARID1B Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). ; to: Original DDG2P rating: confirmed (for both disorders: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900; COFFIN SIRIS SYNDROME 135900).
DDG2P v1.132 ARID1B Rebecca Foulger Phenotypes for gene: ARID1B were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 614562; COFFIN SIRIS SYNDROME to MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900; COFFIN SIRIS SYNDROME 135900
DDG2P v1.131 MUT Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for METHYLMALONIC ACIDURIA TYPE MUT: confirmed. DDG2P allelic requirement: biallelic. DDG2P mutation consequence: loss of function.
DDG2P v1.131 KARS Rebecca Foulger commented on gene: KARS: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
DDG2P v1.131 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Isolated Arhinia/Bosma Arhinia syndrome.
DDG2P v1.131 FAM161A Rebecca Foulger commented on gene: FAM161A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RETINITIS PIGMENTOSA 28.
DDG2P v1.131 ALDOB Rebecca Foulger commented on gene: ALDOB: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
DDG2P v1.131 CISD2 Rebecca Foulger commented on gene: CISD2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for WOLFRAM SYNDROME TYPE 2.
DDG2P v1.131 DARS2 Rebecca Foulger commented on gene: DARS2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION.
DDG2P v1.131 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PARKINSON DISEASE 9.
DDG2P v1.131 SLC4A11 Rebecca Foulger commented on gene: SLC4A11: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4.
DDG2P v1.131 THAP1 Rebecca Foulger commented on gene: THAP1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DYSTONIA 6, TORSION.
DDG2P v1.131 PDCD10 Rebecca Foulger commented on gene: PDCD10: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3.
DDG2P v1.131 ANO5 Rebecca Foulger commented on gene: ANO5: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA.
DDG2P v1.131 SYNE1 Rebecca Foulger commented on gene: SYNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE.
DDG2P v1.131 AIRE Rebecca Foulger commented on gene: AIRE: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1.
DDG2P v1.131 ACADS Rebecca Foulger commented on gene: ACADS: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY.
DDG2P v1.131 CLN6 Rebecca Foulger commented on gene: CLN6: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6; CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
DDG2P v1.131 GBA Rebecca Foulger commented on gene: GBA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 1; GAUCHER DISEASE; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE TYPE 3.
DDG2P v1.131 LDB3 Rebecca Foulger commented on gene: LDB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CARDIOMYOPATHY DILATED TYPE 1C; LEFT VENTRICULAR NON-COMPACTION TYPE 3; MYOPATHY MYOFIBRILLAR TYPE 4.
DDG2P v1.131 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC.
DDG2P v1.131 RRM2B Rebecca Foulger commented on gene: RRM2B: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Mitochondrial depletion syndrome.
DDG2P v1.131 AGXT Rebecca Foulger commented on gene: AGXT: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1.
DDG2P v1.131 KRIT1 Rebecca Foulger commented on gene: KRIT1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1.
DDG2P v1.131 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for INFANTILE NEUROAXONAL DYSTROPHY 1; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B.
DDG2P v1.131 GJB3 Rebecca Foulger commented on gene: GJB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE.
DDG2P v1.131 SMAD4 Rebecca Foulger commented on gene: SMAD4: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JUVENILE POLYPOSIS SYNDROME; JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME.
DDG2P v1.131 BRCA2 Rebecca Foulger commented on gene: BRCA2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1.
DDG2P v1.131 AR Rebecca Foulger commented on gene: AR: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ANDROGEN INSENSITIVITY SYNDROME; SPINAL AND BULBAR MUSCULAR ATROPHY.
DDG2P v1.131 FMR1 Rebecca Foulger commented on gene: FMR1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1.
DDG2P v1.131 BGN Rebecca Foulger commented on gene: BGN: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection.
DDG2P v1.131 AMER1 Rebecca Foulger commented on gene: AMER1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS.
DDG2P v1.131 ABCD1 Rebecca Foulger commented on gene: ABCD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ADRENOLEUKODYSTROPHY, X-LINKED.
DDG2P v1.131 TIMM8A Rebecca Foulger commented on gene: TIMM8A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME.
DDG2P v1.131 MYO7A Rebecca Foulger commented on gene: MYO7A: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B.
DDG2P v1.131 CDH1 Rebecca Foulger commented on gene: CDH1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Blepharo-cheiro-dontic syndrome.
DDG2P v1.131 TGFB2 Rebecca Foulger commented on gene: TGFB2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4.
DDG2P v1.131 NR5A1 Rebecca Foulger commented on gene: NR5A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8.
DDG2P v1.131 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM; ALTERNATING HEMIPLEGIA OF CHILDHOOD.
DDG2P v1.131 KCNE1 Rebecca Foulger commented on gene: KCNE1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2.
DDG2P v1.131 POLD1 Rebecca Foulger commented on gene: POLD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM .
DDG2P v1.131 KIT Rebecca Foulger commented on gene: KIT: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for HUMAN PIEBALDISM.
DDG2P v1.131 RET Rebecca Foulger commented on gene: RET: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB.
DDG2P v1.131 MYH8 Rebecca Foulger commented on gene: MYH8: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DISTAL ARTHROGRYPOSIS TYPE; CARNEY COMPLEX VARIANT.
DDG2P v1.131 LMNA Rebecca Foulger commented on gene: LMNA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LETHAL TIGHT SKIN CONTRACTURE SYNDROME; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE;HUTCHINSON-GILFORD PROGERIA SYNDROME; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED;CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B.
DDG2P v1.131 ALAD Rebecca Foulger commented on gene: ALAD: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for ACUTE HEPATIC PORPHYRIA.
DDG2P v1.131 COL4A1 Rebecca Foulger commented on gene: COL4A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PORENCEPHALY 1.
DDG2P v1.131 COL4A2 Rebecca Foulger commented on gene: COL4A2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for PORENCEPHALY 2.
DDG2P v1.131 HSPD1 Rebecca Foulger commented on gene: HSPD1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LEUKODYSTROPHY HYPOMYELINATING TYPE 4.
DDG2P v1.131 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AR; RENAL TUBULAR ACIDOSIS, DISTAL, AD.
DDG2P v1.131 ACTA2 Rebecca Foulger commented on gene: ACTA2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for AORTIC ANEURYSM, FAMILIAL THORACIC 6; MOYAMOYA DISEASE 5.
DDG2P v1.130 TARS Rebecca Foulger reviewed gene: TARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 FAM149B1 Rebecca Foulger reviewed gene: FAM149B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 LEMD2 Rebecca Foulger reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DHX37 Rebecca Foulger reviewed gene: DHX37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DHX34 Rebecca Foulger reviewed gene: DHX34: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DDX54 Rebecca Foulger reviewed gene: DDX54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 TAOK1 Rebecca Foulger reviewed gene: TAOK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 RINT1 Rebecca Foulger reviewed gene: RINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 BRSK2 Rebecca Foulger reviewed gene: BRSK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 BNC2 Rebecca Foulger reviewed gene: BNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 PIGU Rebecca Foulger reviewed gene: PIGU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 ROBO4 Rebecca Foulger reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 HNRNPR Rebecca Foulger reviewed gene: HNRNPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DLL1 Rebecca Foulger reviewed gene: DLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 B3GAT3 Rebecca Foulger reviewed gene: B3GAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 MYOCD Rebecca Foulger reviewed gene: MYOCD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 FBXW11 Rebecca Foulger reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 PIGB Rebecca Foulger reviewed gene: PIGB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DHX16 Rebecca Foulger reviewed gene: DHX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 DYNC1I2 Rebecca Foulger reviewed gene: DYNC1I2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 CDK8 Rebecca Foulger reviewed gene: CDK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 KCNN3 Rebecca Foulger reviewed gene: KCNN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 POU3F3 Rebecca Foulger reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 SMARCD1 Rebecca Foulger reviewed gene: SMARCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 AP2M1 Rebecca Foulger reviewed gene: AP2M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 CACNA1B Rebecca Foulger reviewed gene: CACNA1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 RRAS2 Rebecca Foulger reviewed gene: RRAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 WDR37 Rebecca Foulger reviewed gene: WDR37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 POLA1 Rebecca Foulger reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 GPC4 Rebecca Foulger reviewed gene: GPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 VAMP2 Rebecca Foulger reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 POLR2A Rebecca Foulger reviewed gene: POLR2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 CSF1R Rebecca Foulger reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 GOT2 Rebecca Foulger reviewed gene: GOT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.130 NUP214 Rebecca Foulger reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.129 TARS Rebecca Foulger gene: TARS was added
gene: TARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TARS were set to 31374204
Phenotypes for gene: TARS were set to Non-photosensitive trichothiodystrophy
DDG2P v1.129 FAM149B1 Rebecca Foulger gene: FAM149B1 was added
gene: FAM149B1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Ciliopathy-related syndromic intellectual disability
DDG2P v1.129 LEMD2 Rebecca Foulger gene: LEMD2 was added
gene: LEMD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LEMD2 were set to 30905398
Phenotypes for gene: LEMD2 were set to Nuclear Envelopathy with Early Progeroid Appearance
Mode of pathogenicity for gene: LEMD2 was set to Other - please provide details in the comments
DDG2P v1.129 DHX37 Rebecca Foulger gene: DHX37 was added
gene: DHX37 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DHX37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHX37 were set to 31256877
Phenotypes for gene: DHX37 were set to Intellectual Disability and Central Nervous System anomalies
Mode of pathogenicity for gene: DHX37 was set to Other - please provide details in the comments
DDG2P v1.129 DHX34 Rebecca Foulger gene: DHX34 was added
gene: DHX34 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DHX34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHX34 were set to 31256877
Phenotypes for gene: DHX34 were set to INTELLECTUAL DISABILITY 616579
Mode of pathogenicity for gene: DHX34 was set to Other - please provide details in the comments
DDG2P v1.129 DDX54 Rebecca Foulger gene: DDX54 was added
gene: DDX54 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DDX54 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX54 were set to 31256877
Phenotypes for gene: DDX54 were set to Intellectual Disability and Central Nervous System anomalies
Mode of pathogenicity for gene: DDX54 was set to Other - please provide details in the comments
DDG2P v1.129 TAOK1 Rebecca Foulger gene: TAOK1 was added
gene: TAOK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TAOK1 were set to 31230721
Phenotypes for gene: TAOK1 were set to INTELLECTUAL DISABILITY 616579
DDG2P v1.129 RINT1 Rebecca Foulger gene: RINT1 was added
gene: RINT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to 31204009
Phenotypes for gene: RINT1 were set to Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
DDG2P v1.129 BRSK2 Rebecca Foulger gene: BRSK2 was added
gene: BRSK2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BRSK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRSK2 were set to 30879638
Phenotypes for gene: BRSK2 were set to Neurodevelopmental Disorder
DDG2P v1.129 BNC2 Rebecca Foulger gene: BNC2 was added
gene: BNC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BNC2 were set to 31051115
Phenotypes for gene: BNC2 were set to Congenital Lower Urinary Tract Obstruction
DDG2P v1.129 PIGU Rebecca Foulger gene: PIGU was added
gene: PIGU was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PIGU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PIGU were set to 31353022
Phenotypes for gene: PIGU were set to Intellectual Disability, Central Nervous System anomalies and Scoliosis
Mode of pathogenicity for gene: PIGU was set to Other - please provide details in the comments
DDG2P v1.129 ROBO4 Rebecca Foulger gene: ROBO4 was added
gene: ROBO4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ROBO4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ROBO4 were set to 30455415
Phenotypes for gene: ROBO4 were set to Bicuspid Aortic Valve and Aortic Aneurysm 618496
DDG2P v1.129 HNRNPR Rebecca Foulger gene: HNRNPR was added
gene: HNRNPR was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPR were set to 31079900
Phenotypes for gene: HNRNPR were set to INTELLECTUAL DISABILITY 616579
DDG2P v1.129 DLL1 Rebecca Foulger gene: DLL1 was added
gene: DLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to INTELLECTUAL DISABILITY 616579
DDG2P v1.129 B3GAT3 Rebecca Foulger gene: B3GAT3 was added
gene: B3GAT3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GAT3 were set to 31438591
Phenotypes for gene: B3GAT3 were set to MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600
Mode of pathogenicity for gene: B3GAT3 was set to Other - please provide details in the comments
DDG2P v1.129 MYOCD Rebecca Foulger gene: MYOCD was added
gene: MYOCD was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYOCD were set to 31513549
Phenotypes for gene: MYOCD were set to Congenital megabladder
DDG2P v1.129 FBXW11 Rebecca Foulger gene: FBXW11 was added
gene: FBXW11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to 31402090
Phenotypes for gene: FBXW11 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: FBXW11 was set to Other - please provide details in the comments
DDG2P v1.129 PIGB Rebecca Foulger gene: PIGB was added
gene: PIGB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: PIGB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGB were set to 31256876
Phenotypes for gene: PIGB were set to Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality
DDG2P v1.129 DHX16 Rebecca Foulger gene: DHX16 was added
gene: DHX16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DHX16 were set to 31256877
Phenotypes for gene: DHX16 were set to Intellectual Disability, Central Nervous System anomalies and Seizures
Mode of pathogenicity for gene: DHX16 was set to Other - please provide details in the comments
DDG2P v1.129 DYNC1I2 Rebecca Foulger gene: DYNC1I2 was added
gene: DYNC1I2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 618492
DDG2P v1.129 CDK8 Rebecca Foulger gene: CDK8 was added
gene: CDK8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDK8 were set to 30905399
Phenotypes for gene: CDK8 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: CDK8 was set to Other - please provide details in the comments
DDG2P v1.129 KCNN3 Rebecca Foulger gene: KCNN3 was added
gene: KCNN3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to 31155282
Phenotypes for gene: KCNN3 were set to ZIMMERMANN-LABAND SYNDROME
Mode of pathogenicity for gene: KCNN3 was set to Other - please provide details in the comments
DDG2P v1.129 POU3F3 Rebecca Foulger gene: POU3F3 was added
gene: POU3F3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POU3F3 were set to 31303265
Phenotypes for gene: POU3F3 were set to INTELLECTUAL DISABILITY 616579
Mode of pathogenicity for gene: POU3F3 was set to Other - please provide details in the comments
DDG2P v1.129 SMARCD1 Rebecca Foulger gene: SMARCD1 was added
gene: SMARCD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: SMARCD1 was set to Other - please provide details in the comments
DDG2P v1.129 AP2M1 Rebecca Foulger gene: AP2M1 was added
gene: AP2M1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP2M1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AP2M1 were set to 31104773
Phenotypes for gene: AP2M1 were set to Developmental and Epileptic Encephalopathy
Mode of pathogenicity for gene: AP2M1 was set to Other - please provide details in the comments
DDG2P v1.129 CACNA1B Rebecca Foulger gene: CACNA1B was added
gene: CACNA1B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1B were set to 30982612
Phenotypes for gene: CACNA1B were set to NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497
DDG2P v1.129 RRAS2 Rebecca Foulger gene: RRAS2 was added
gene: RRAS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RRAS2 were set to 31130282; 31130285; 24705357
Phenotypes for gene: RRAS2 were set to Noonan syndrome
Mode of pathogenicity for gene: RRAS2 was set to Other - please provide details in the comments
DDG2P v1.129 WDR37 Rebecca Foulger gene: WDR37 was added
gene: WDR37 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR37 were set to 31327508; 31327510
Phenotypes for gene: WDR37 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: WDR37 was set to Other - please provide details in the comments
DDG2P v1.129 POLA1 Rebecca Foulger gene: POLA1 was added
gene: POLA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: POLA1 were set to 31006512
Phenotypes for gene: POLA1 were set to VAN ESCH-O'DRISCOLL SYNDROME 301030
DDG2P v1.129 GPC4 Rebecca Foulger gene: GPC4 was added
gene: GPC4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPC4 were set to 30982611
Phenotypes for gene: GPC4 were set to KEIPERT SYNDROME 301026
DDG2P v1.129 VAMP2 Rebecca Foulger gene: VAMP2 was added
gene: VAMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to INTELLECTUAL DISABILITY 616579
Mode of pathogenicity for gene: VAMP2 was set to Other - please provide details in the comments
DDG2P v1.129 POLR2A Rebecca Foulger gene: POLR2A was added
gene: POLR2A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR2A were set to 31353023
Phenotypes for gene: POLR2A were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
Mode of pathogenicity for gene: POLR2A was set to Other - please provide details in the comments
DDG2P v1.129 CSF1R Rebecca Foulger gene: CSF1R was added
gene: CSF1R was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSF1R were set to 30982608; 30982609
Phenotypes for gene: CSF1R were set to BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476
DDG2P v1.129 GOT2 Rebecca Foulger gene: GOT2 was added
gene: GOT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Malate-Aspartate Shuttle-Related Encephalopathy
Mode of pathogenicity for gene: GOT2 was set to Other - please provide details in the comments
DDG2P v1.129 NUP214 Rebecca Foulger gene: NUP214 was added
gene: NUP214 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128
Phenotypes for gene: NUP214 were set to Acute Febrile Encephalopathy 618426
DDG2P v1.128 SOX11 alisdair mcneill reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P v1.127 SNORD118 Rebecca Foulger Phenotypes for gene: SNORD118 were changed from Leukoencephalopathy with cerebral calcification & cysts to Leukoencephalopathy with cerebral calcification & cysts 614561
DDG2P v1.126 SNORD118 Rebecca Foulger changed review comment from: Original DDG2P rating: both DD and IF. ; to: Original DDG2P rating for Leukoencephalopathy with cerebral calcification & cysts: both DD and IF. DDG2P Mutation consequence: loss of function; DDG2P allelic requirement: biallelic.
DDG2P v1.126 SNORD118 Rebecca Foulger commented on gene: SNORD118: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'both RD and IF' for Leukoencephalopathy with cerebral calcification & cysts.
DDG2P v1.126 MYH6 Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v1.126 MYH6 Rebecca Foulger changed review comment from: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).; to: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is no 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v1.126 MYH6 Rebecca Foulger Phenotypes for gene: MYH6 were changed from CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 160710 to CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 614089
DDG2P v1.125 MYH6 Rebecca Foulger commented on gene: MYH6: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).
DDG2P v1.125 BRCA1 Rebecca Foulger commented on gene: BRCA1: In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder).
DDG2P v1.125 BRCA1 Rebecca Foulger Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY 616579
DDG2P v1.124 KDM5B Rebecca Foulger Publications for gene: KDM5B were set to 24307393; 28720891
DDG2P v1.123 KDM5B Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'monoallelic' to 'BOTH monoallelic and biallelic' to match the September 2019 DDG2P update.
DDG2P v1.123 KDM5B Rebecca Foulger Mode of inheritance for gene: KDM5B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.122 KDM5B Rebecca Foulger Classified gene: KDM5B as Amber List (moderate evidence)
DDG2P v1.122 KDM5B Rebecca Foulger Added comment: Comment on list classification: Updated rating of KDM5B from Red to Amber: A DDG2P update (September 2019) has changed the rating from 'possible' to 'probable'. The Mode of inheritance was also changed in the September 2019 update from monoallelic to both monoallelic and biallelic.
DDG2P v1.122 KDM5B Rebecca Foulger Gene: kdm5b has been classified as Amber List (Moderate Evidence).
DDG2P v1.121 KDM5B Rebecca Foulger changed review comment from: Original DDG2P rating: possible. ; to: Original DDG2P rating for Autism: possible. DDG2P Mutation consequence: loss of function. Mode of inheritance: monoallelic.
DDG2P v1.121 ACTL6B Rebecca Foulger Classified gene: ACTL6B as Green List (high evidence)
DDG2P v1.121 ACTL6B Rebecca Foulger Added comment: Comment on list classification: Updated rating of ACTL6B from Red to Green, to match 'confirmed' rating of new DDG2P disorder: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE.
DDG2P v1.121 ACTL6B Rebecca Foulger Gene: actl6b has been classified as Green List (High Evidence).
DDG2P v1.120 ACTL6B Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed MOP from 'Other' to default, since the confirmed (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) disorder has loss of function listed as the DDG2P mutation consequence.
DDG2P v1.120 ACTL6B Rebecca Foulger Mode of pathogenicity for gene: ACTL6B was changed from Other - please provide details in the comments to None
DDG2P v1.119 ACTL6B Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to BIALLELIC to match the MOI of the confirmed disorder. Only the new biallelic disorder (EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE) has a 'confirmed' rating. Both monoallelic disorders have 'possible' ratings.
DDG2P v1.119 ACTL6B Rebecca Foulger Mode of inheritance for gene: ACTL6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.118 ACTL6B Rebecca Foulger commented on gene: ACTL6B: Two new gene:disorder associations added to DDG2P for ACTL6B, September 2019:

New gene:disorder association: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic.

New gene:disorder association: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS. Disease confidence rating in DDG2P: possible. DDG2P mutation consequence: all missense/in frame; DDG2P allelic requirement: monoallelic.
DDG2P v1.118 ACTL6B Rebecca Foulger Publications for gene: ACTL6B were set to 28867141
DDG2P v1.117 ACTL6B Rebecca Foulger Phenotypes for gene: ACTL6B were changed from Unspecified Neurodevelopmental Disorder to Unspecified Neurodevelopmental Disorder; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468; INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470
DDG2P v1.116 ACTL6B Rebecca Foulger changed review comment from: Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame ; to: Original DDG2P rating for Unspecified Neurodevelopmental Disorder: possible. DDG2P mode of pathogenicity: all missense/in frame; DG2P allelic requirement: monoallelic.
DDG2P v1.116 FAT4 Rebecca Foulger commented on gene: FAT4: Two new gene:disorders added to DDG2P for FAT4, September 2019:

New gene:disorder association: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: uncertain; DDG2P allelic requirement: biallelic.

New gene:disorder association: VAN MALDERGEM SYNDROME. Disease confidence rating in DDG2P: confirmed. DDG2P mutation consequence: loss of function; DDG2P allelic requirement: biallelic.
DDG2P v1.116 FAT4 Rebecca Foulger Phenotypes for gene: FAT4 were changed from PERIVENTRICULAR NEURONAL HETEROTOPIA to PERIVENTRICULAR NEURONAL HETEROTOPIA; HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006; VAN MALDERGEM SYNDROME 615546
DDG2P v1.115 FAT4 Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for PERIVENTRICULAR NEURONAL HETEROTOPIA: confirmed. DDG2P Mutation consequence: loss of function; DDG2P allelic requirement: biallelic.
DDG2P v1.115 KDM3B Rebecca Foulger commented on gene: KDM3B: New gene:disorder association added to DDG2P for KDM3B, September 2019: Intellectual Disability, Short Stature, and Facial Dysmorphism. Disease confidence rating in DDG2P: probable; DDG2P mutation consequence: loss of function; DDG2P mode of inheritance: monoallelic.
DDG2P v1.115 KDM3B Rebecca Foulger Phenotypes for gene: KDM3B were changed from KDM3B-related intellectual disability, short stature and facial dysmorphism to Intellectual Disability, Short Stature, and Facial Dysmorphism; KDM3B-related intellectual disability, short stature and facial dysmorphism
DDG2P v1.114 KMT2E Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for INTELLECTUAL DISABILITY: confirmed. DDG2P Mode of Pathogenicity/Mutation consequence: loss of function; DDG2P Mode of inheritance/allelic requirement: monoallelic.
DDG2P v1.114 KMT2E Rebecca Foulger commented on gene: KMT2E: New gene:disorder association added to DDG2P for KMT2E, September 2019: Neurodevelopmental disorder and Epilepsy. Disease confidence rating in DDG2P: possible; DDG2P mutation consequence: uncertain; DDG2P mode of inheritance: monoallelic.
DDG2P v1.114 KMT2E Rebecca Foulger Publications for gene: KMT2E were set to
DDG2P v1.113 KMT2E Rebecca Foulger Phenotypes for gene: KMT2E were changed from INTELLECTUAL DISABILITY to INTELLECTUAL DISABILITY 616579; Neurodevelopmental disorder and Epilepsy 618512
DDG2P v1.112 NBAS Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. ; to: Original DDG2P rating for ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD: confirmed. DDG2P Mode of Pathogenicity: loss of function; DDG2P Mode of Inheritance: biallelic.
DDG2P v1.112 NBAS Rebecca Foulger commented on gene: NBAS: New gene:disorder association added to DDG2P for NBAS, September 2019: ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY. Disease confidence rating in DDG2P: confirmed; DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.112 NBAS Rebecca Foulger Phenotypes for gene: NBAS were changed from ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD to ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD; SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483
DDG2P v1.111 CNOT1 Rebecca Foulger Phenotypes for gene: CNOT1 were changed from pancreatic agenesis and holoprosencephaly syndrome to pancreatic agenesis and holoprosencephaly syndrome; HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500
DDG2P v1.110 CNOT1 Rebecca Foulger commented on gene: CNOT1: New gene:disorder association added to DDG2P for CNOT1, September 2019: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS. Disease confidence rating in DDG2P: probable; DDG2P mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.110 SCN11A Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: activating ; to: Original DDG2P rating for CONGENITAL INABILITY TO EXPERIENCE PAIN: confirmed. DDG2P mode of pathogenicity: activating. DDG2P mode of inheritance: monoallelic.
DDG2P v1.110 SCN11A Rebecca Foulger commented on gene: SCN11A: New gene:disorder association added to DDG2P for SCN11A, September 2019: EPISODIC PAIN SYNDROME, FAMILIAL. Disease confidence rating in DDG2P: both RD and IF; DDG2P mutation consequence: activating. DDG2P mode of inheritance: monoallelic.
DDG2P v1.110 SCN11A Rebecca Foulger Phenotypes for gene: SCN11A were changed from CONGENITAL INABILITY TO EXPERIENCE PAIN to CONGENITAL INABILITY TO EXPERIENCE PAIN; EPISODIC PAIN SYNDROME, FAMILIAL 615552
DDG2P v1.109 FLNA Rebecca Foulger commented on gene: FLNA: New gene:disorder association added to DDG2P, September 2019: PERIVENTRICULAR NODULAR HETEROTOPIA 1. Disease confidence rating in DDG2P: confirmed; DDG2P mutation consequence: loss of function. DDG2P mode of inheritance: x-linked dominant.
DDG2P v1.109 FLNA Rebecca Foulger Phenotypes for gene: FLNA were changed from FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244 to PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049; FRONTOMETAPHYSEAL DYSPLASIA 305620; FG SYNDROME TYPE 2 300321; X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048; MELNICK-NEEDLES SYNDROME 309350; Childhood Interstitial Lung Disease; EPILEPTIC ENCEPHALOPATHY; OTOPALATODIGITAL SYNDROME TYPE 1 311300; OTOPALATODIGITAL SYNDROME TYPE 2 304120; TERMINAL OSSEOUS DYSPLASIA 300244
DDG2P v1.108 CLIC2 Rebecca Foulger Phenotypes for gene: CLIC2 were changed from Mental retardation, X-linked, syndromic 32 to Mental retardation, X-linked, syndromic 32 300886
DDG2P v1.107 DKC1 Rebecca Foulger Phenotypes for gene: DKC1 were changed from DYSKERATOSIS CONGENITA, X-LINKED; DKC1-RELATED DYSKERATOSIS CONGENITA 314912 to DYSKERATOSIS CONGENITA, X-LINKED, 305000; DKC1-RELATED DYSKERATOSIS CONGENITA 314912
DDG2P v1.106 GDI1 Rebecca Foulger Phenotypes for gene: GDI1 were changed from MENTAL RETARDATION X-LINKED TYPE 48 300104; MENTAL RETARDATION X-LINKED TYPE 41 300104 to MENTAL RETARDATION X-LINKED TYPE 48 300849; MENTAL RETARDATION X-LINKED TYPE 41 300849
DDG2P v1.105 TUBB Rebecca Foulger Phenotypes for gene: TUBB were changed from Circumferential Skin Creases Kunze Type; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 to Circumferential Skin Creases Kunze Type 156610; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771
DDG2P v1.104 TPM2 Rebecca Foulger Phenotypes for gene: TPM2 were changed from ARTHROGRYPOSIS, DISTAL, TYPE 1 to ARTHROGRYPOSIS, DISTAL, TYPE 1 108120
DDG2P v1.103 TGFB3 Rebecca Foulger Phenotypes for gene: TGFB3 were changed from LOEYS-DIETZ SYNDROME to LOEYS-DIETZ SYNDROME 615582
DDG2P v1.102 TGFBR1 Rebecca Foulger Phenotypes for gene: TGFBR1 were changed from LOEYS-DIETZ SYNDROME TYPE 2A 608967; LOEYS-DIETZ SYNDROME TYPE 1A 609192; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 608967 to LOEYS-DIETZ SYNDROME TYPE 2A 608967; LOEYS-DIETZ SYNDROME TYPE 1A 609192; AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 609192
DDG2P v1.101 ABL1 Rebecca Foulger Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations 617602
DDG2P v1.100 POLG Rebecca Foulger Phenotypes for gene: POLG were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 607459 to MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700
DDG2P v1.99 PAX9 Rebecca Foulger Phenotypes for gene: PAX9 were changed from TOOTH AGENESIS, SELECTIVE, 3 318869 to TOOTH AGENESIS, SELECTIVE, 3 604625
DDG2P v1.98 GLI3 Rebecca Foulger Phenotypes for gene: GLI3 were changed from PREAXIAL POLYDACTYLY TYPE IV 269157; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700; POSTAXIAL POLYDACTYLY TYPE A 149847; PALLISTER-HALL SYNDROME 146510 to PREAXIAL POLYDACTYLY TYPE IV 269157; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700; POSTAXIAL POLYDACTYLY TYPE A 174200; PALLISTER-HALL SYNDROME 146510
DDG2P v1.97 MYH9 Rebecca Foulger Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 605249; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 600208; EPSTEIN SYNDROME 153650; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 153640 to DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622; SEBASTIAN SYNDROME 155100; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100; EPSTEIN SYNDROME 155100; MAY-HEGGLIN ANOMALY 155100; FECHTNER SYNDROME 155100
DDG2P v1.96 MITF Rebecca Foulger Phenotypes for gene: MITF were changed from Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510 to Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470; TIETZ SYNDROME 103500; WAARDENBURG SYNDROME TYPE 2A 193510
DDG2P v1.95 LAMA1 Rebecca Foulger Phenotypes for gene: LAMA1 were changed from CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY; AUTOSOMAL RECESSIVE MENTAL RETARDATION to CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960; AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v1.94 ITPR1 Rebecca Foulger Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome to SPINOCEREBELLAR ATAXIA TYPE15 606658; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360; Gillespie Syndrome 206700
DDG2P v1.93 SLC2A2 Rebecca Foulger Phenotypes for gene: SLC2A2 were changed from FANCONI-BICKEL SYNDROME 269871 to FANCONI-BICKEL SYNDROME 227810
DDG2P v1.92 FGFR1 Rebecca Foulger Phenotypes for gene: FGFR1 were changed from PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis to PFEIFFER SYNDROME 101600; OSTEOGLOPHONIC DYSPLASIA 166250; Hartsfield syndrome 615465; KALLMANN SYNDROME TYPE 2 147950; IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110; Encephalocraniocutaneous lipomatosis 613001
DDG2P v1.91 FN1 Rebecca Foulger Phenotypes for gene: FN1 were changed from Spondylometaphyseal Dysplasia with Corner Fractures to Spondylometaphyseal Dysplasia with Corner Fractures 184255
DDG2P v1.90 EDNRA Rebecca Foulger Phenotypes for gene: EDNRA were changed from MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA to MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 616367
DDG2P v1.89 ERCC1 Rebecca Foulger Phenotypes for gene: ERCC1 were changed from FANCONI ANEMIA 229154; CEREBROOCULOFACIOSKELETAL SYNDROME 4 298956 to FANCONI ANEMIA 229154; CEREBROOCULOFACIOSKELETAL SYNDROME 4 610758
DDG2P v1.88 DSG1 Rebecca Foulger Phenotypes for gene: DSG1 were changed from SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING to SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508
DDG2P v1.87 CRYGD Rebecca Foulger Phenotypes for gene: CRYGD were changed from CATARACT CONGENITAL CERULEAN TYPE 3 608983; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700 to CATARACT CONGENITAL CERULEAN TYPE 3 115700; CATARACT AUTOSOMAL DOMINANT 604219; CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690; CATARACT CRYSTALLINE ACULEIFORM 115700
DDG2P v1.86 CRYAA Rebecca Foulger Phenotypes for gene: CRYAA were changed from CATARACT, NUCLEAR 123580; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 123580 to CATARACT, NUCLEAR 123580; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219
DDG2P v1.85 COL18A1 Rebecca Foulger Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I 315926 to KNOBLOCH SYNDROME TYPE I 267750
DDG2P v1.84 COL11A2 Rebecca Foulger Phenotypes for gene: COL11A2 were changed from WEISSENBACHER-ZWEYMUELLER SYNDROME 277610; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150; DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868; STICKLER SYNDROME TYPE 3 184840; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 to WEISSENBACHER-ZWEYMUELLER SYNDROME 184840; AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150; DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868; STICKLER SYNDROME TYPE 3 184840; DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706
DDG2P v1.83 CDH3 Rebecca Foulger Phenotypes for gene: CDH3 were changed from EEM SYNDROME 280238; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 to EEM SYNDROME 225280; HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553
DDG2P v1.82 ACTA1 Rebecca Foulger Phenotypes for gene: ACTA1 were changed from NEMALINE MYOPATHY 3 to NEMALINE MYOPATHY 3, 161800
DDG2P v1.81 CYP27A1 Rebecca Foulger commented on gene: CYP27A1
DDG2P v1.81 ANAPC1 Rebecca Foulger commented on gene: ANAPC1
DDG2P v1.81 CYP27A1 Rebecca Foulger gene: CYP27A1 was added
gene: CYP27A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 2019602; 16278884
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis
DDG2P v1.81 ANAPC1 Rebecca Foulger gene: ANAPC1 was added
gene: ANAPC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANAPC1 were set to 31303264
Phenotypes for gene: ANAPC1 were set to Rothmund-Thomson Syndrome Type 1
DDG2P v1.80 EPRS Louise Daugherty Tag new-gene-name tag was added to gene: EPRS.
DDG2P v1.80 EPRS Louise Daugherty commented on gene: EPRS
DDG2P v1.80 ARSE Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
DDG2P v1.80 ARSE Louise Daugherty commented on gene: ARSE
DDG2P v1.80 HIST1H4J Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4J.
DDG2P v1.80 HIST1H4J Louise Daugherty commented on gene: HIST1H4J
DDG2P v1.80 HIST1H4C Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4C.
DDG2P v1.80 HIST1H4C Louise Daugherty commented on gene: HIST1H4C
DDG2P v1.80 HIST1H4B Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H4B.
DDG2P v1.80 HIST1H4B Louise Daugherty commented on gene: HIST1H4B
DDG2P v1.80 HIST1H1E Louise Daugherty Tag new-gene-name tag was added to gene: HIST1H1E.
DDG2P v1.80 HIST1H1E Louise Daugherty commented on gene: HIST1H1E
DDG2P v1.80 HIST3H3 Louise Daugherty Tag new-gene-name tag was added to gene: HIST3H3.
DDG2P v1.80 HIST3H3 Louise Daugherty commented on gene: HIST3H3
DDG2P v1.80 KIF1BP Louise Daugherty Tag new-gene-name tag was added to gene: KIF1BP.
DDG2P v1.80 KIF1BP Louise Daugherty commented on gene: KIF1BP
DDG2P v1.80 HARS Louise Daugherty Tag new-gene-name tag was added to gene: HARS.
DDG2P v1.80 HARS Louise Daugherty commented on gene: HARS
DDG2P v1.80 CARS Louise Daugherty Tag new-gene-name tag was added to gene: CARS.
DDG2P v1.80 CARS Louise Daugherty commented on gene: CARS
DDG2P v1.80 IARS Louise Daugherty Tag new-gene-name tag was added to gene: IARS.
DDG2P v1.80 IARS Louise Daugherty commented on gene: IARS
DDG2P v1.80 QARS Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
DDG2P v1.80 QARS Louise Daugherty commented on gene: QARS
DDG2P v1.80 KARS Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
DDG2P v1.80 KARS Louise Daugherty commented on gene: KARS
DDG2P v1.80 AARS Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
DDG2P v1.80 AARS Louise Daugherty commented on gene: AARS
DDG2P v1.80 DARS Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
DDG2P v1.80 DARS Louise Daugherty commented on gene: DARS
DDG2P v1.80 SETD1B Rebecca Foulger reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.79 SETD1B Rebecca Foulger gene: SETD1B was added
gene: SETD1B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SETD1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SETD1B were set to 29322246
Phenotypes for gene: SETD1B were set to SETD1B associated intellectual disability, epilepsy and autism
DDG2P v1.78 MYPN Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DD-G2P rating for Childhood-Onset, Slowly Progressive Nemaline Myopathy: child IF.; to: Original DDG2P rating for Childhood-Onset, Slowly Progressive Nemaline Myopathy: child IF.
DDG2P v1.78 PIH1D3 Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.; to: Original DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.
DDG2P v1.78 TMEM199 Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for Disorder of Golgi homeostasis: child IF.; to: Original DDG2P rating for Disorder of Golgi homeostasis: child IF.
DDG2P v1.78 TERC Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for Dyskeratosis congenita, autosomal dominant 1 : child IF.; to: Original DDG2P rating for Dyskeratosis congenita, autosomal dominant 1: child IF.
DDG2P v1.77 BGN Rebecca Foulger Source Expert Review Green was added to BGN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ANO5 Rebecca Foulger Source Expert Review Green was added to ANO5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 FMR1 Rebecca Foulger Source Expert Review Green was added to FMR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SMAD4 Rebecca Foulger Source Expert Review Green was added to SMAD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 TIMM8A Rebecca Foulger Source Expert Review Green was added to TIMM8A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 THAP1 Rebecca Foulger Source Expert Review Green was added to THAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 TGFB2 Rebecca Foulger Source Expert Review Green was added to TGFB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SYNE1 Rebecca Foulger Source Expert Review Green was added to SYNE1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SPTLC2 Rebecca Foulger Source Expert Review Green was added to SPTLC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SNORD118 Rebecca Foulger Source Expert Review Green was added to SNORD118.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SMCHD1 Rebecca Foulger Source Expert Review Green was added to SMCHD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SLC4A11 Rebecca Foulger Source Expert Review Green was added to SLC4A11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 SLC4A1 Rebecca Foulger Source Expert Review Green was added to SLC4A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 RRM2B Rebecca Foulger Source Expert Review Green was added to RRM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 RET Rebecca Foulger Source Expert Review Green was added to RET.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 POLD1 Rebecca Foulger Source Expert Review Green was added to POLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 PLA2G6 Rebecca Foulger Source Expert Review Green was added to PLA2G6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 PDCD10 Rebecca Foulger Source Expert Review Green was added to PDCD10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 NR5A1 Rebecca Foulger Source Expert Review Green was added to NR5A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 MYO7A Rebecca Foulger Source Expert Review Green was added to MYO7A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 MYH8 Rebecca Foulger Source Expert Review Green was added to MYH8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 MYH6 Rebecca Foulger Source Expert Review Green was added to MYH6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 LMNA Rebecca Foulger Source Expert Review Green was added to LMNA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 LDB3 Rebecca Foulger Source Expert Review Green was added to LDB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 KRIT1 Rebecca Foulger Source Expert Review Green was added to KRIT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 KIT Rebecca Foulger Source Expert Review Green was added to KIT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 KARS Rebecca Foulger Source Expert Review Green was added to KARS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 HSPD1 Rebecca Foulger Source Expert Review Green was added to HSPD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 GJB3 Rebecca Foulger Source Expert Review Green was added to GJB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 GBA Rebecca Foulger Source Expert Review Green was added to GBA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 FAM161A Rebecca Foulger Source Expert Review Green was added to FAM161A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 DARS2 Rebecca Foulger Source Expert Review Green was added to DARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 COL4A2 Rebecca Foulger Source Expert Review Green was added to COL4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 COL4A1 Rebecca Foulger Source Expert Review Green was added to COL4A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 CLN6 Rebecca Foulger Source Expert Review Green was added to CLN6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 CISD2 Rebecca Foulger Source Expert Review Green was added to CISD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 CDH1 Rebecca Foulger Source Expert Review Green was added to CDH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 BRCA2 Rebecca Foulger Source Expert Review Green was added to BRCA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 BRCA1 Rebecca Foulger Source Expert Review Green was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ATP1A3 Rebecca Foulger Source Expert Review Green was added to ATP1A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ATP13A2 Rebecca Foulger Source Expert Review Green was added to ATP13A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 AR Rebecca Foulger Source Expert Review Green was added to AR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 AMER1 Rebecca Foulger Source Expert Review Green was added to AMER1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ALDOB Rebecca Foulger Source Expert Review Green was added to ALDOB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ALAD Rebecca Foulger Source Expert Review Green was added to ALAD.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 AIRE Rebecca Foulger Source Expert Review Green was added to AIRE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 AGXT Rebecca Foulger Source Expert Review Green was added to AGXT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ACTA2 Rebecca Foulger Source Expert Review Green was added to ACTA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ACADS Rebecca Foulger Source Expert Review Green was added to ACADS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.77 ABCD1 Rebecca Foulger Source Expert Review Green was added to ABCD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v1.76 BGN Rebecca Foulger commented on gene: BGN: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia.
DDG2P v1.76 ANO5 Rebecca Foulger commented on gene: ANO5: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L.
DDG2P v1.76 FMR1 Rebecca Foulger commented on gene: FMR1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME.
DDG2P v1.76 SMAD4 Rebecca Foulger commented on gene: SMAD4: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.
DDG2P v1.76 TIMM8A Rebecca Foulger commented on gene: TIMM8A: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 THAP1 Rebecca Foulger commented on gene: THAP1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 TGFB2 Rebecca Foulger commented on gene: TGFB2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SYNE1 Rebecca Foulger commented on gene: SYNE1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SNORD118 Rebecca Foulger commented on gene: SNORD118: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SLC4A11 Rebecca Foulger commented on gene: SLC4A11: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 RRM2B Rebecca Foulger commented on gene: RRM2B: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 RET Rebecca Foulger commented on gene: RET: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 POLD1 Rebecca Foulger commented on gene: POLD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 PDCD10 Rebecca Foulger commented on gene: PDCD10: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 NR5A1 Rebecca Foulger commented on gene: NR5A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 MYO7A Rebecca Foulger commented on gene: MYO7A: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 MYH8 Rebecca Foulger commented on gene: MYH8: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 MYH6 Rebecca Foulger commented on gene: MYH6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 LMNA Rebecca Foulger commented on gene: LMNA: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 LDB3 Rebecca Foulger commented on gene: LDB3: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 KRIT1 Rebecca Foulger commented on gene: KRIT1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 KIT Rebecca Foulger commented on gene: KIT: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 KARS Rebecca Foulger commented on gene: KARS: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 HSPD1 Rebecca Foulger commented on gene: HSPD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 GJB3 Rebecca Foulger commented on gene: GJB3: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 GBA Rebecca Foulger commented on gene: GBA: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 FAM161A Rebecca Foulger commented on gene: FAM161A: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 DARS2 Rebecca Foulger commented on gene: DARS2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 COL4A2 Rebecca Foulger commented on gene: COL4A2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 COL4A1 Rebecca Foulger commented on gene: COL4A1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 CLN6 Rebecca Foulger commented on gene: CLN6: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 CISD2 Rebecca Foulger commented on gene: CISD2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 CDH1 Rebecca Foulger commented on gene: CDH1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 BRCA2 Rebecca Foulger commented on gene: BRCA2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 BRCA1 Rebecca Foulger commented on gene: BRCA1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 AR Rebecca Foulger commented on gene: AR: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 AMER1 Rebecca Foulger commented on gene: AMER1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ALDOB Rebecca Foulger commented on gene: ALDOB: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ALAD Rebecca Foulger commented on gene: ALAD: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 AIRE Rebecca Foulger commented on gene: AIRE: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 AGXT Rebecca Foulger commented on gene: AGXT: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ACTA2 Rebecca Foulger commented on gene: ACTA2: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ACADS Rebecca Foulger commented on gene: ACADS: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.76 ABCD1 Rebecca Foulger commented on gene: ABCD1: Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
DDG2P v1.75 PCDH19 Rebecca Foulger Added comment: Comment on mode of inheritance: Note that the allelic requirement for PCDH19 in Gene2Phenotype is x-linked over-dominance. Note from Anna de Burca (Genomics England clinical team): PCDH19 only causes epilepsy in heterozygous females, and hemizygous males are unaffected. For the purposes of the pipeline, use 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease' to ensure that females with a variant are not missed.
DDG2P v1.75 PCDH19 Rebecca Foulger Mode of inheritance for gene: PCDH19 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.74 MN1 Rebecca Foulger commented on gene: MN1
DDG2P v1.74 EIF3F Rebecca Foulger commented on gene: EIF3F
DDG2P v1.74 BRD4 Rebecca Foulger commented on gene: BRD4
DDG2P v1.74 PCDH19 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of Inheritance from 'x-linked over dominance' to a PanelApp standardised MOI term.
DDG2P v1.74 PCDH19 Rebecca Foulger Mode of inheritance for gene: PCDH19 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.73 MN1 Rebecca Foulger gene: MN1 was added
gene: MN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MN1 were set to 21242494
Phenotypes for gene: MN1 were set to MN1 C-terminal truncation syndrome
DDG2P v1.73 EIF3F Rebecca Foulger gene: EIF3F was added
gene: EIF3F was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 30409806
Phenotypes for gene: EIF3F were set to EIF3F related developmental disorder
DDG2P v1.73 BRD4 Rebecca Foulger gene: BRD4 was added
gene: BRD4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRD4 were set to 29379197; 30302754
Phenotypes for gene: BRD4 were set to CORNELIA DE LANGE-LIKE SYNDROME
DDG2P v1.72 RAD51 Rebecca Foulger Classified gene: RAD51 as Red List (low evidence)
DDG2P v1.72 RAD51 Rebecca Foulger Added comment: Comment on list classification: Changed rating from Amber to Red to reflect a change in DD-G2P Disease confidence from probable to possible in June 2019. Disease remains as: MIRROR MOVEMENTS 2. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: loss of function.
DDG2P v1.72 RAD51 Rebecca Foulger Gene: rad51 has been classified as Red List (Low Evidence).
DDG2P v1.71 CHD3 Rebecca Foulger Phenotypes for gene: CHD3 were changed from Apraxia of speech to Macrocephaly and impaired speech and language
DDG2P v1.70 CHD3 Rebecca Foulger Added comment: Comment on publications: Added PMID:30397230 based on June 2019 DD-G2P update for CHD3. Removed PMID:29463886 as it is no longer listed as a reference in DD-G2P for CHD3.
DDG2P v1.70 CHD3 Rebecca Foulger Publications for gene: CHD3 were set to 29463886
DDG2P v1.69 CHD3 Rebecca Foulger Added comment: Comment on phenotypes: Replaced phenotype 'Apraxia of speech' with 'Macrocephaly and impaired speech and language' to reflect June 2019 DD-G2P update for CHD3. Disease confidence rating remains as: probable. Mode of inheritance remains as: monoallelic. Mode of pathogenicity remains as: all missense/in frame.
DDG2P v1.69 CHD3 Rebecca Foulger Phenotypes for gene: CHD3 were changed from Apraxia of speech to Apraxia of speech
DDG2P v1.68 COL4A3BP Louise Daugherty commented on gene: COL4A3BP
DDG2P v1.68 COL4A3BP Louise Daugherty Tag new-gene-name tag was added to gene: COL4A3BP.
DDG2P v1.66 FMR1 Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P mode of inheritance is hemizygous for FRAGILE X SYNDROME (confirmed); hemizygous for FRAGILE X TREMOR/ATAXIA SYNDROME (both DD and IF); x-linked dominant for PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 (both DD and IF).
DDG2P v1.66 FMR1 Rebecca Foulger Mode of inheritance for gene: FMR1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.65 EFNB1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed Mode of inheritance from 'x-linked over-dominance' to standardised PanelApp term for X-linked dominant; this matches the MOI of EFNB1 on other PanelApp panels.
DDG2P v1.65 EFNB1 Rebecca Foulger Mode of inheritance for gene: EFNB1 was changed from x-linked over-dominance to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.64 ADAR Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is biallelic for SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE; monoallelic for SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY. Both disorders have a confirmed Disease confidence rating.
DDG2P v1.64 ADAR Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.63 ADAR Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is both monoallelic and biallelic for AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE; monoallelic for DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1. Both disorders have a confirmed Disease confidence rating.
DDG2P v1.63 ADAR Rebecca Foulger Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.62 ALDH18A1 Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is monoallelic for CUTIS LAXA, AUTOSOMAL DOMINANT 3;biallelic for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; monoallelic for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT. All disorders have a confirmed Disease confidence rating.
DDG2P v1.62 ALDH18A1 Rebecca Foulger Mode of inheritance for gene: ALDH18A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.61 FBN1 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed MARFAN SYNDROME; monoallelic for confirmed MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; monoallelic for confirmed SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME.
DDG2P v1.61 FBN1 Rebecca Foulger Mode of inheritance for gene: FBN1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.60 GJC2 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for LEUKODYSTROPHY, HYPOMYELINATING, 2; monoallelic for LYMPHEDEMA, HEREDITARY, IC; monoallelic for SPASTIC PARAPLEGIA, 44. All disorders have a confirmed Disease confidence rating.
DDG2P v1.60 GJC2 Rebecca Foulger Mode of inheritance for gene: GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.59 IHH Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for ACROCAPITOFEMORAL DYSPLASIA; confirmed for BRACHYDACTYLY, TYPE A1. Both diseases have a confirmed Disease confidence rating.
DDG2P v1.59 IHH Rebecca Foulger Mode of inheritance for gene: IHH was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.58 ITPR1 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as both monoallelic (dominant negative) and biallelic (loss of function) for confirmed Gillespie Syndrome.
DDG2P v1.58 ITPR1 Rebecca Foulger Mode of inheritance for gene: ITPR1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.57 KIF1A Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is listed as monoallelic for MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 (all missense/in frame); biallelic for NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (loss of function).
DDG2P v1.57 KIF1A Rebecca Foulger Mode of inheritance for gene: KIF1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.56 LRP5 Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P lists MOI as monoallelic for ENDOSTEAL HYPEROSTOSIS WORTH TYPE; monoallelic for HIGH BONE MASS TRAIT; monoallelic for OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1; biallelic for OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; monoallelic for VITREORETINOPATHY EXUDATIVE TYPE 4. All diseases have a confirmed Disease confidence rating.
DDG2P v1.56 LRP5 Rebecca Foulger Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.55 MAB21L2 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MICROPHTHALMIA, SYNDROMIC 14 is listed as monoallelic for an activating mutation consequence, and biallelic for a LOF mutation consequence.
DDG2P v1.55 MAB21L2 Rebecca Foulger Mode of inheritance for gene: MAB21L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.54 MMP13 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for METAPHYSEAL ANADYSPLASIA TYPE 1; monoallelic for SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE. Both diseases have a Confirmed Disease Confidence rating.
DDG2P v1.54 MMP13 Rebecca Foulger Mode of inheritance for gene: MMP13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.53 NALCN Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; biallelic for HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES; biallelic for SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY. All diseases have a Confirmed Disease Confidence rating.
DDG2P v1.53 NALCN Rebecca Foulger Mode of inheritance for gene: NALCN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.52 PIEZO2 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as monoallelic for ARTHROGRYPOSIS, DISTAL, TYPE 3; biallelic for Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception. Both diseases have a confirmed Disease confidence rating.
DDG2P v1.52 PIEZO2 Rebecca Foulger Mode of inheritance for gene: PIEZO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.51 PIK3R1 Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; monoallelic for SHORT SYNDROME. Both syndromes have a Disease confidence rating of 'confirmed'.
DDG2P v1.51 PIK3R1 Rebecca Foulger Mode of inheritance for gene: PIK3R1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.50 PTH1R Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MOI is listed as biallelic for CHONDRODYSPLASIA BLOMSTRAND TYPE; biallelic for EIKEN SKELETAL DYSPLASIA; monoallelic for ANSEN METAPHYSEAL CHONDRODYSPLASIA; monoallelic for PRIMARY FAILURE OF TOOTH ERUPTION. All diseases have a confirmed Disease confidence rating.
DDG2P v1.50 PTH1R Rebecca Foulger Mode of inheritance for gene: PTH1R was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.49 FLNA Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is listed as hemizygous mosaic for Childhood Interstitial Lung Disease; x-linked dominant for EPILEPTIC ENCEPHALOPATHY; hemizygous for FG SYNDROME TYPE 2; x-linked dominant for MELNICK-NEEDLES SYNDROME; hemizygous for FRONTOMETAPHYSEAL DYSPLASIA; hemizygous for OTOPALATODIGITAL SYNDROME TYPE 1; hemizygous for OTOPALATODIGITAL SYNDROME TYPE 2; hemizygous for TERMINAL OSSEOUS DYSPLASIA; hemizygous for X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION. All disorders have a Confirmed Disease confidence rating.
DDG2P v1.49 FLNA Rebecca Foulger Mode of inheritance for gene: FLNA was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.48 IKBKG Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P records an MOI of hemizygous for ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED; ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA; IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA; SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1. DDG2P records an MOI of monoallelic for INCONTINENTIA PIGMENTI 308300.
DDG2P v1.48 IKBKG Rebecca Foulger Mode of inheritance for gene: IKBKG was changed from X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.47 NSDHL Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, the MOI is recorded as hemizygous for CK SYNDROME and x-linked dominant for CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS.
DDG2P v1.47 NSDHL Rebecca Foulger Mode of inheritance for gene: NSDHL was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.46 PDHA1 Rebecca Foulger Added comment: Comment on mode of inheritance: IN DDG2P, the MOI is listed as hemizygous for INTELLECTUAL DISABILTIY (note typo in DDG2P disease name); x-linked dominant for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; hemizygous for X-LINKED LEIGH SYNDROME. All disorders have a confirmed Disease confidence rating. Therefore have selected an X-linked dominant MOI in PanelApp so all cases can be caught.
DDG2P v1.46 PDHA1 Rebecca Foulger Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.45 KDM3B Rebecca Foulger commented on gene: KDM3B
DDG2P v1.45 KDM3B Rebecca Foulger gene: KDM3B was added
gene: KDM3B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KDM3B were set to 30929739
Phenotypes for gene: KDM3B were set to KDM3B-related intellectual disability, short stature and facial dysmorphism
DDG2P v1.44 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
DDG2P v1.44 MUT Louise Daugherty commented on gene: MUT
DDG2P v1.44 SMAD6 Rebecca Foulger Classified gene: SMAD6 as Red List (low evidence)
DDG2P v1.44 SMAD6 Rebecca Foulger Added comment: Comment on list classification: Updated rating of SMAD6 from Amber to Red following a rating change in DD-G2P (DD-G2P panel downloaded May 9th 2019). The original DDG2P Disease confidence of 'probable' was replaced with a new Disease confidence of 'possible' for Non-syndromic craniosynostosis. Mode of inheritance remains as: monoallelic. Mode of pathogenicity/mutation consequence remains as: loss of function.
DDG2P v1.44 SMAD6 Rebecca Foulger Gene: smad6 has been classified as Red List (Low Evidence).
DDG2P v1.43 CNOT1 Rebecca Foulger reviewed gene: CNOT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.43 HNRNPK Rebecca Foulger reviewed gene: HNRNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.42 CNOT1 Rebecca Foulger gene: CNOT1 was added
gene: CNOT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNOT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CNOT1 were set to 31006510; 31006513
Phenotypes for gene: CNOT1 were set to pancreatic agenesis and holoprosencephaly syndrome
Mode of pathogenicity for gene: CNOT1 was set to Other - please provide details in the comments
DDG2P v1.42 HNRNPK Rebecca Foulger gene: HNRNPK was added
gene: HNRNPK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPK were set to 29904177; 30998304
Phenotypes for gene: HNRNPK were set to Au-Kline Syndrome
DDG2P v1.41 APOPT1 Louise Daugherty Tag new-gene-name tag was added to gene: APOPT1.
DDG2P v1.41 APOPT1 Louise Daugherty commented on gene: APOPT1
DDG2P v1.41 FUK Louise Daugherty Tag new-gene-name tag was added to gene: FUK.
DDG2P v1.41 FUK Louise Daugherty commented on gene: FUK
DDG2P v1.41 SIM1 Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu).
DDG2P v1.41 SIM1 Rebecca Foulger Tag multifactorial tag was added to gene: SIM1.
DDG2P v1.41 SIM1 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD inheritance in OMIM for Obesity, severe (MIM:601665).
DDG2P v1.41 SIM1 Rebecca Foulger Mode of inheritance for gene: SIM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
DDG2P v1.40 SPTBN2 Rebecca Foulger Added comment: Comment on mode of inheritance: Multiple MOIs for different disorders in DD-Gene2Phenotype: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable.
DDG2P v1.40 SPTBN2 Rebecca Foulger Mode of inheritance for gene: SPTBN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.39 SPTBN2 Rebecca Foulger Tag watchlist tag was added to gene: SPTBN2.
DDG2P v1.39 SPTBN2 Rebecca Foulger commented on gene: SPTBN2: Added 'watchlist' tag to highlight multiple Disease confidence ratings in DD-G2P. Rated confirmed for 'SCA14'. Rated probable for 'Infantile ataxia with oculomotor and pyramidal signs'.
DDG2P v1.39 C11orf70 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the DDG2P panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063.
DDG2P v1.39 C11orf70 Rebecca Foulger Mode of inheritance for gene: C11orf70 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.38 C11orf70 Rebecca Foulger Tag new-gene-name tag was added to gene: C11orf70.
DDG2P v1.38 C11orf70 Rebecca Foulger commented on gene: C11orf70: Added 'new-gene-name' tag: C11orf70 has a new gene symbol in HGNC: CFAP300.
DDG2P v1.38 ATP5D Rebecca Foulger commented on gene: ATP5D: Added 'new-gene-name' tag: ATP5D has a new gene symbol in HGNC: ATP5F1D.
DDG2P v1.38 ATP5D Rebecca Foulger Tag new-gene-name tag was added to gene: ATP5D.
DDG2P v1.38 ZMIZ1 Rebecca Foulger reviewed gene: ZMIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 WASF1 Rebecca Foulger reviewed gene: WASF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 VPS53 Rebecca Foulger reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TRRAP Rebecca Foulger reviewed gene: TRRAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TRPV6 Rebecca Foulger reviewed gene: TRPV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TOP3A Rebecca Foulger reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 TMEM94 Rebecca Foulger reviewed gene: TMEM94: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SUZ12 Rebecca Foulger reviewed gene: SUZ12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SPTBN2 Rebecca Foulger reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SOX4 Rebecca Foulger reviewed gene: SOX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SMARCC2 Rebecca Foulger reviewed gene: SMARCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SIM1 Rebecca Foulger reviewed gene: SIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 SEPSECS Rebecca Foulger reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 RNF13 Rebecca Foulger reviewed gene: RNF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 RMI1 Rebecca Foulger reviewed gene: RMI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 RHOBTB2 Rebecca Foulger reviewed gene: RHOBTB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PUS7 Rebecca Foulger reviewed gene: PUS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PRR12 Rebecca Foulger reviewed gene: PRR12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PPP2CA Rebecca Foulger reviewed gene: PPP2CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PMPCB Rebecca Foulger reviewed gene: PMPCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PIGS Rebecca Foulger reviewed gene: PIGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 PAK1 Rebecca Foulger reviewed gene: PAK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NPR3 Rebecca Foulger reviewed gene: NPR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NDUFB8 Rebecca Foulger reviewed gene: NDUFB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NDUFA6 Rebecca Foulger reviewed gene: NDUFA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NCAPG2 Rebecca Foulger reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 NBEA Rebecca Foulger reviewed gene: NBEA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MYF5 Rebecca Foulger reviewed gene: MYF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MRPS2 Rebecca Foulger reviewed gene: MRPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MED13 Rebecca Foulger reviewed gene: MED13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MAPK8IP3 Rebecca Foulger reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 MACF1 Rebecca Foulger reviewed gene: MACF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 LNPK Rebecca Foulger reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 IRF2BPL Rebecca Foulger reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 GAS2L2 Rebecca Foulger reviewed gene: GAS2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 FUT8 Rebecca Foulger reviewed gene: FUT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 FUK Rebecca Foulger reviewed gene: FUK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 FDFT1 Rebecca Foulger reviewed gene: FDFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 EXTL3 Rebecca Foulger reviewed gene: EXTL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 EXOSC9 Rebecca Foulger reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 EPRS Rebecca Foulger reviewed gene: EPRS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 DNAH9 Rebecca Foulger reviewed gene: DNAH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 DHPS Rebecca Foulger reviewed gene: DHPS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CNPY3 Rebecca Foulger reviewed gene: CNPY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 C11orf70 Rebecca Foulger reviewed gene: C11orf70: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CCNK Rebecca Foulger reviewed gene: CCNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CCDC47 Rebecca Foulger reviewed gene: CCDC47: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 CARS Rebecca Foulger reviewed gene: CARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP6V1E1 Rebecca Foulger reviewed gene: ATP6V1E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP6V1A Rebecca Foulger reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP5D Rebecca Foulger reviewed gene: ATP5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATP1A1 Rebecca Foulger reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ATN1 Rebecca Foulger reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ARL3 Rebecca Foulger reviewed gene: ARL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ADPRHL2 Rebecca Foulger reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.38 ADAMTS9 Rebecca Foulger reviewed gene: ADAMTS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.37 ZMIZ1 Rebecca Foulger gene: ZMIZ1 was added
gene: ZMIZ1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZMIZ1 were set to 30639322
Phenotypes for gene: ZMIZ1 were set to Syndromic Neurodevelopmental Disorder
DDG2P v1.37 WASF1 Rebecca Foulger gene: WASF1 was added
gene: WASF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WASF1 were set to 29961568
Phenotypes for gene: WASF1 were set to Intellectual Disability with Seizures
DDG2P v1.37 VPS53 Rebecca Foulger gene: VPS53 was added
gene: VPS53 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 30100179; 24577744
Phenotypes for gene: VPS53 were set to Progressive cerebella-cerebral atrophy type 2
DDG2P v1.37 TRRAP Rebecca Foulger gene: TRRAP was added
gene: TRRAP was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to Autism and Syndromic Intellectual Disability
Mode of pathogenicity for gene: TRRAP was set to Other - please provide details in the comments
DDG2P v1.37 TRPV6 Rebecca Foulger gene: TRPV6 was added
gene: TRPV6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism
DDG2P v1.37 TOP3A Rebecca Foulger gene: TOP3A was added
gene: TOP3A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 30193137
Phenotypes for gene: TOP3A were set to Bloom Syndrome like Disorder
DDG2P v1.37 TMEM94 Rebecca Foulger gene: TMEM94 was added
gene: TMEM94 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to Neurodevelopmental Delay Congenital Heart Defects and Distinct Facial Dysmorphism
DDG2P v1.37 SUZ12 Rebecca Foulger gene: SUZ12 was added
gene: SUZ12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUZ12 were set to 30019515; 28229514
Phenotypes for gene: SUZ12 were set to Weaver-like overgrowth syndrome
DDG2P v1.37 SPTBN2 Rebecca Foulger gene: SPTBN2 was added
gene: SPTBN2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPTBN2 were set to 25981959; 22914369; 29795474
Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs
DDG2P v1.37 SOX4 Rebecca Foulger gene: SOX4 was added
gene: SOX4 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SOX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOX4 were set to 30661772
Phenotypes for gene: SOX4 were set to Neurodevelopmental Disease Associated with Mild Dysmorphism
Mode of pathogenicity for gene: SOX4 was set to Other - please provide details in the comments
DDG2P v1.37 SMARCC2 Rebecca Foulger gene: SMARCC2 was added
gene: SMARCC2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: SMARCC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SMARCC2 were set to 30580808
Phenotypes for gene: SMARCC2 were set to Syndromic Intellectual Disability and Developmental Delay
DDG2P v1.37 SIM1 Rebecca Foulger gene: SIM1 was added
gene: SIM1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SIM1 was set to
Publications for gene: SIM1 were set to 28472148; 23778136; 23778139
Phenotypes for gene: SIM1 were set to Severe obesity with neurobehavioral features
DDG2P v1.37 SEPSECS Rebecca Foulger gene: SEPSECS was added
gene: SEPSECS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
DDG2P v1.37 RNF13 Rebecca Foulger gene: RNF13 was added
gene: RNF13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RNF13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNF13 were set to 30595371
Phenotypes for gene: RNF13 were set to Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive
Mode of pathogenicity for gene: RNF13 was set to Other - please provide details in the comments
DDG2P v1.37 RMI1 Rebecca Foulger gene: RMI1 was added
gene: RMI1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: RMI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMI1 were set to 30193137
Phenotypes for gene: RMI1 were set to Bloom Syndrome like Disorder
DDG2P v1.37 RHOBTB2 Rebecca Foulger gene: RHOBTB2 was added
gene: RHOBTB2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RHOBTB2 were set to 29276004
Phenotypes for gene: RHOBTB2 were set to Developmental and Epileptic Encephalopathy
Mode of pathogenicity for gene: RHOBTB2 was set to Other - please provide details in the comments
DDG2P v1.37 PUS7 Rebecca Foulger gene: PUS7 was added
gene: PUS7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS7 were set to 30526862
Phenotypes for gene: PUS7 were set to Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior
DDG2P v1.37 PRR12 Rebecca Foulger gene: PRR12 was added
gene: PRR12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PRR12 was set to
Publications for gene: PRR12 were set to 29556724; 26163108
Phenotypes for gene: PRR12 were set to Intellectual disability and iris abnormalities
DDG2P v1.37 PPP2CA Rebecca Foulger gene: PPP2CA was added
gene: PPP2CA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders
DDG2P v1.37 PMPCB Rebecca Foulger gene: PMPCB was added
gene: PMPCB was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Neurodegeneration in Early Childhood
Mode of pathogenicity for gene: PMPCB was set to Other - please provide details in the comments
DDG2P v1.37 PIGS Rebecca Foulger gene: PIGS was added
gene: PIGS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGS were set to 30269814
Phenotypes for gene: PIGS were set to Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy
DDG2P v1.37 PAK1 Rebecca Foulger gene: PAK1 was added
gene: PAK1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: PAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PAK1 were set to 30290153
Phenotypes for gene: PAK1 were set to Neurodevelopmental Disorder
Mode of pathogenicity for gene: PAK1 was set to Other - please provide details in the comments
DDG2P v1.37 NPR3 Rebecca Foulger gene: NPR3 was added
gene: NPR3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR3 were set to 30032985
Phenotypes for gene: NPR3 were set to Enhanced Growth and Connective Tissue Abnormalities
DDG2P v1.37 NDUFB8 Rebecca Foulger gene: NDUFB8 was added
gene: NDUFB8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB8 were set to 29429571
Phenotypes for gene: NDUFB8 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY, 252010
DDG2P v1.37 NDUFA6 Rebecca Foulger gene: NDUFA6 was added
gene: NDUFA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA6 were set to 30245030
Phenotypes for gene: NDUFA6 were set to Early Onset Isolated Mitochondrial Complex I Deficiency
DDG2P v1.37 NCAPG2 Rebecca Foulger gene: NCAPG2 was added
gene: NCAPG2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPG2 were set to 30609410
Phenotypes for gene: NCAPG2 were set to Severe Neurodevelopmental Syndrome
Mode of pathogenicity for gene: NCAPG2 was set to Other - please provide details in the comments
DDG2P v1.37 NBEA Rebecca Foulger gene: NBEA was added
gene: NBEA was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: NBEA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NBEA were set to 30269351
Phenotypes for gene: NBEA were set to NBEA Neurodevelopment disorder with seizures
DDG2P v1.37 MYF5 Rebecca Foulger gene: MYF5 was added
gene: MYF5 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MYF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYF5 were set to 29887215
Phenotypes for gene: MYF5 were set to External Ophthalmoplegia Rib and Vertebral Anomalies
DDG2P v1.37 MRPS2 Rebecca Foulger gene: MRPS2 was added
gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS2 were set to 29576219
Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies
Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments
DDG2P v1.37 MED13 Rebecca Foulger gene: MED13 was added
gene: MED13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MED13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED13 were set to 29740699
Phenotypes for gene: MED13 were set to MED13 - Neurodevelopment disorder
DDG2P v1.37 MAPK8IP3 Rebecca Foulger gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30612693
Phenotypes for gene: MAPK8IP3 were set to Intellectual Disability with Variable Brain Anomalies
DDG2P v1.37 MACF1 Rebecca Foulger gene: MACF1 was added
gene: MACF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MACF1 were set to 30471716
Phenotypes for gene: MACF1 were set to Defects in Neuronal Migration and Axon Guidance
Mode of pathogenicity for gene: MACF1 was set to Other - please provide details in the comments
DDG2P v1.37 LNPK Rebecca Foulger gene: LNPK was added
gene: LNPK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to 30032983
Phenotypes for gene: LNPK were set to Recessive Neurodevelopmental Syndrome
DDG2P v1.37 IRF2BPL Rebecca Foulger gene: IRF2BPL was added
gene: IRF2BPL was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IRF2BPL were set to 30193138
Phenotypes for gene: IRF2BPL were set to Neurological Phenotypes
DDG2P v1.37 GAS2L2 Rebecca Foulger gene: GAS2L2 was added
gene: GAS2L2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: GAS2L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAS2L2 were set to 30665704
Phenotypes for gene: GAS2L2 were set to Impaired Cilia Orientation and Mucociliary Clearance
DDG2P v1.37 FUT8 Rebecca Foulger gene: FUT8 was added
gene: FUT8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUT8 were set to 29304374
Phenotypes for gene: FUT8 were set to Congenital Disorder of Glycosylation with Defective Fucosylation
DDG2P v1.37 FUK Rebecca Foulger gene: FUK was added
gene: FUK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: FUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FUK were set to 30503518
Phenotypes for gene: FUK were set to CONGENITAL DISORDER OF GLYCOSYLATION
Mode of pathogenicity for gene: FUK was set to Other - please provide details in the comments
DDG2P v1.37 FDFT1 Rebecca Foulger gene: FDFT1 was added
gene: FDFT1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDFT1 were set to 29909962
Phenotypes for gene: FDFT1 were set to Defect in Cholesterol Biosynthesis
DDG2P v1.37 EXTL3 Rebecca Foulger gene: EXTL3 was added
gene: EXTL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXTL3 were set to 28132690
Phenotypes for gene: EXTL3 were set to Neuro immuno skeletal Dysplasia Syndrome
Mode of pathogenicity for gene: EXTL3 was set to Other - please provide details in the comments
DDG2P v1.37 EXOSC9 Rebecca Foulger gene: EXOSC9 was added
gene: EXOSC9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EXOSC9 was set to
Publications for gene: EXOSC9 were set to 29727687
Phenotypes for gene: EXOSC9 were set to Cerebellar Atrophy with Spinal Motor Neuronopathy
DDG2P v1.37 EPRS Rebecca Foulger gene: EPRS was added
gene: EPRS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: EPRS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPRS were set to 29576217
Phenotypes for gene: EPRS were set to Hypomyelinating Leukodystrophy
DDG2P v1.37 DNAH9 Rebecca Foulger gene: DNAH9 was added
gene: DNAH9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718
Phenotypes for gene: DNAH9 were set to Motile Cilia Defects and Situs Inversus
DDG2P v1.37 DHPS Rebecca Foulger gene: DHPS was added
gene: DHPS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: DHPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHPS were set to 30661771
Phenotypes for gene: DHPS were set to Neurodevelopmental Disorder of Hypusination
Mode of pathogenicity for gene: DHPS was set to Other - please provide details in the comments
DDG2P v1.37 CNPY3 Rebecca Foulger gene: CNPY3 was added
gene: CNPY3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CNPY3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNPY3 were set to 29394991
Phenotypes for gene: CNPY3 were set to EARLY ONSET EPILEPTIC ENCEPHALOPATHY
DDG2P v1.37 C11orf70 Rebecca Foulger gene: C11orf70 was added
gene: C11orf70 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: C11orf70 was set to
Publications for gene: C11orf70 were set to 29727693; 29727692
Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v1.37 CCNK Rebecca Foulger gene: CCNK was added
gene: CCNK was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red
Mode of inheritance for gene: CCNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCNK were set to 30122539
Phenotypes for gene: CCNK were set to Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism
DDG2P v1.37 CCDC47 Rebecca Foulger gene: CCDC47 was added
gene: CCDC47 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CCDC47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC47 were set to 30401460
Phenotypes for gene: CCDC47 were set to Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay
DDG2P v1.37 CARS Rebecca Foulger gene: CARS was added
gene: CARS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS were set to 30824121
Phenotypes for gene: CARS were set to Microcephaly Developmental Delay and Brittle Hair and Nails
DDG2P v1.37 ATP6V1E1 Rebecca Foulger gene: ATP6V1E1 was added
gene: ATP6V1E1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1E1 were set to 28065471
Phenotypes for gene: ATP6V1E1 were set to Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa
Mode of pathogenicity for gene: ATP6V1E1 was set to Other - please provide details in the comments
DDG2P v1.37 ATP6V1A Rebecca Foulger gene: ATP6V1A was added
gene: ATP6V1A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 28065471
Phenotypes for gene: ATP6V1A were set to Autosomal Recessive Cutis Laxa
Mode of pathogenicity for gene: ATP6V1A was set to Other - please provide details in the comments
DDG2P v1.37 ATP5D Rebecca Foulger gene: ATP5D was added
gene: ATP5D was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to ATP5F1D metabolic disorder
Mode of pathogenicity for gene: ATP5D was set to Other - please provide details in the comments
DDG2P v1.37 ATP1A1 Rebecca Foulger gene: ATP1A1 was added
gene: ATP1A1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A1 were set to 30388404
Phenotypes for gene: ATP1A1 were set to Renal Hypomagnesemia Refractory Seizures and Intellectual Disability
Mode of pathogenicity for gene: ATP1A1 was set to Other - please provide details in the comments
DDG2P v1.37 ATN1 Rebecca Foulger gene: ATN1 was added
gene: ATN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATN1 were set to 30827498
Phenotypes for gene: ATN1 were set to congenital hypotonia, epilepsy, developmental delay, digit abnormalities
Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments
DDG2P v1.37 ARL3 Rebecca Foulger gene: ARL3 was added
gene: ARL3 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812
Phenotypes for gene: ARL3 were set to JOUBERT SYNDROME, 614615
Mode of pathogenicity for gene: ARL3 was set to Other - please provide details in the comments
DDG2P v1.37 ADPRHL2 Rebecca Foulger gene: ADPRHL2 was added
gene: ADPRHL2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ADPRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADPRHL2 were set to 30388405; 30401461
Phenotypes for gene: ADPRHL2 were set to Degenerative Pediatric Stress Induced Epileptic Ataxia Syndrome; Neurodegeneration with Developmental Delay Ataxia and Axonal Neuropathy
DDG2P v1.37 ADAMTS9 Rebecca Foulger gene: ADAMTS9 was added
gene: ADAMTS9 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS9 were set to 30609407
Phenotypes for gene: ADAMTS9 were set to Nephronophthisis Related Ciliopathy
Mode of pathogenicity for gene: ADAMTS9 was set to Other - please provide details in the comments
DDG2P v1.36 NR2F2 Rebecca Foulger Phenotypes for gene: NR2F2 were changed from Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal to CONGENITAL HEART DEFECTS and XX sex reversal
DDG2P v1.35 XYLT1 Rebecca Foulger Publications for gene: XYLT1 were set to 24581741
DDG2P v1.34 XYLT1 Rebecca Foulger commented on gene: XYLT1: Added 'watchlist' tag to highlight different DD-G2P Disease confidence ratings for different disorders: Rated confirmed for DESBUQUOIS DYSPLASIA 2. Rated probable for 'Baratela Scott Syndrome (added to Gene2Phenotype, March 2019).
DDG2P v1.34 XYLT1 Rebecca Foulger commented on gene: XYLT1: New gene:disorder association added to DDG2P in March 2019: Baratela Scott Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: cis-regulatory or promotor mutation. DDG2P mode of inheritance: biallelic.
DDG2P v1.34 XYLT1 Rebecca Foulger Tag watchlist tag was added to gene: XYLT1.
DDG2P v1.34 XYLT1 Rebecca Foulger Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 615777 to DESBUQUOIS DYSPLASIA 2 615777; Baratela Scott Syndrome
DDG2P v1.33 TRAF7 Rebecca Foulger commented on gene: TRAF7: Kept 'watchlist' tag when adding in new DD-G2P gene-disorder from March 2019; although DDG2P has multiple ratings (probable and confirmed), the three disorders are very similar (Developmental Delay Congenital Anomalies and Dysmorphic Features, Developmental Delay, Congenital Anomalies, and Dysmorphic Features, Developmental delay, congenital malformations and dysmorphism).
DDG2P v1.33 TRAF7 Rebecca Foulger Publications for gene: TRAF7 were set to 29961569
DDG2P v1.32 TRAF7 Rebecca Foulger commented on gene: TRAF7: New gene:disorder association added to DDG2P in March 2019: Developmental Delay Congenital Anomalies and Dysmorphic Features. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.32 POLR3A Rebecca Foulger Publications for gene: POLR3A were set to 21855841; 17159124; 22036171; 12605447
DDG2P v1.31 POLR3A Rebecca Foulger Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 to Autosomal Recessive Wiedemann Rautenstrauch Syndrome; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694
DDG2P v1.30 POLR3A Rebecca Foulger commented on gene: POLR3A: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.30 PCGF2 Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal.
DDG2P v1.30 PCGF2 Rebecca Foulger Tag watchlist tag was added to gene: PCGF2.
DDG2P v1.30 PCGF2 Rebecca Foulger Classified gene: PCGF2 as Green List (high evidence)
DDG2P v1.30 PCGF2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green to reflect 'confirmed' disorder added to Gene2Phenotype in March 2019 (Craniofacial Neurological Cardiovascular and Skeletal).
DDG2P v1.30 PCGF2 Rebecca Foulger Gene: pcgf2 has been classified as Green List (High Evidence).
DDG2P v1.29 PCGF2 Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.29 PCGF2 Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features
DDG2P v1.28 PACS2 Rebecca Foulger Publications for gene: PACS2 were set to 28867141
DDG2P v1.27 PACS2 Rebecca Foulger Classified gene: PACS2 as Amber List (moderate evidence)
DDG2P v1.27 PACS2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect new DDG2P Disease confidence rating of probable for 'Unspecified Neurodevelopmental Disorder (the previous rating was 'possible').
DDG2P v1.27 PACS2 Rebecca Foulger Gene: pacs2 has been classified as Amber List (Moderate Evidence).
DDG2P v1.26 NFIB Rebecca Foulger Phenotypes for gene: NFIB were changed from Intellectual disability with macrocephaly to Intellectual disability with macrocephaly; Intellectual Disability and Macrocephaly
DDG2P v1.25 NFIB Rebecca Foulger commented on gene: NFIB: New gene:disorder association added to DDG2P in March 2019: Intellectual Disability and Macrocephaly. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic. Note that at the time of curation, the existing disorder 'Intellectual Disability and macrocephaly' exists in DD-G2P as a separate entry.
DDG2P v1.25 MYH3 Rebecca Foulger Added comment: Comment on mode of inheritance: Although the newly-added disorder (Recessive Spondylocarpotarsal Synostosis Syndrome) has a biallelic MOI, I have kept the PanelApp MOI as 'monoallelic' to reflect the confirmed disease ratings (for DISTAL ARTHROGRYPOSIS TYPE 2A 193700 and DISTAL ARTHROGRYPOSIS TYPE 2B.
DDG2P v1.25 MYH3 Rebecca Foulger Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v1.24 MYH3 Rebecca Foulger commented on gene: MYH3: Added 'watchlist' tag to reflect multiple ratings for different G2P disorders: confirmed for DISTAL ARTHROGRYPOSIS TYPE 2A, confirmed for DISTAL ARTHROGRYPOSIS TYPE 2B, probable for Recessive Spondylocarpotarsal Synostosis Syndrome (added to G2P in March 2019). Kept rating as Green to reflect highest Disease Confidence.
DDG2P v1.24 MYH3 Rebecca Foulger commented on gene: MYH3: New gene:disorder association added to DDG2P in March 2019: Recessive Spondylocarpotarsal Synostosis Syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.24 MYH3 Rebecca Foulger Tag watchlist tag was added to gene: MYH3.
DDG2P v1.24 MYH3 Rebecca Foulger Publications for gene: MYH3 were set to 16642020
DDG2P v1.23 MYH3 Rebecca Foulger Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680 to DISTAL ARTHROGRYPOSIS TYPE 2A 193700; DISTAL ARTHROGRYPOSIS TYPE 2B 601680; Recessive Spondylocarpotarsal Synostosis Syndrome
DDG2P v1.22 LRRC56 Rebecca Foulger commented on gene: LRRC56: Curated updates to DD-G2P from March 2019 for 'Mucociliary Clearance and Laterality Defects'. Allelic requirement is now biallelic. Mutation consequence is now 'loss of function'. The Disease confidence rating remains as probable.
DDG2P v1.22 LRRC56 Rebecca Foulger Added comment: Comment on mode of inheritance: Added biallelic MOI to reflect the updated MOI in DD-G2P for Mucociliary Clearance and Laterality Defects (previously the MOI was missing).
DDG2P v1.22 LRRC56 Rebecca Foulger Mode of inheritance for gene: LRRC56 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.21 LRRC56 Rebecca Foulger Publications for gene: LRRC56 were set to
DDG2P v1.20 KCNK4 Rebecca Foulger Classified gene: KCNK4 as Amber List (moderate evidence)
DDG2P v1.20 KCNK4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect 'probable' disease confidence for 'Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth' added to DD-G2P in March 2019.
DDG2P v1.20 KCNK4 Rebecca Foulger Gene: kcnk4 has been classified as Amber List (Moderate Evidence).
DDG2P v1.19 KCNK4 Rebecca Foulger commented on gene: KCNK4: Added 'watchlist' tag to highlight different DDG2P Disease confidence ratings for different disorders: Probable for Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth (with all missense/in frame MOP). Possible for FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) (with activating MOP).
DDG2P v1.19 KCNK4 Rebecca Foulger Tag watchlist tag was added to gene: KCNK4.
DDG2P v1.19 KCNK4 Rebecca Foulger commented on gene: KCNK4: New gene:disorder association added to DDG2P in March 2019: Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
DDG2P v1.19 KCNK4 Rebecca Foulger Phenotypes for gene: KCNK4 were changed from FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth) to FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth); Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth
DDG2P v1.18 FBXO11 Rebecca Foulger commented on gene: FBXO11: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P for different disorders: Rated 'possible' for FBXO11 related intellectual disability. Rated 'confirmed' for Variable Neurodevelopmental Disorder. Both disorders have monoallelic MOI and 'loss of function' MOP.
DDG2P v1.18 FBXO11 Rebecca Foulger Tag watchlist tag was added to gene: FBXO11.
DDG2P v1.18 FBXO11 Rebecca Foulger Classified gene: FBXO11 as Green List (high evidence)
DDG2P v1.18 FBXO11 Rebecca Foulger Added comment: Comment on list classification: Changed rating from Red to Green to reflect new 'confirmed' gene-disorder association added to DD-G2P in March 2019: Variable Neurodevelopmental Disorder.
DDG2P v1.18 FBXO11 Rebecca Foulger Gene: fbxo11 has been classified as Green List (High Evidence).
DDG2P v1.17 FBXO11 Rebecca Foulger Phenotypes for gene: FBXO11 were changed from FBXO11 related intellectual disability to FBXO11 related intellectual disability; Variable Neurodevelopmental Disorder
DDG2P v1.16 FBXO11 Rebecca Foulger commented on gene: FBXO11: New gene:disorder association added to DDG2P in March 2019: Variable Neurodevelopmental Disorder. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: monoallelic.
DDG2P v1.16 DSTYK Rebecca Foulger Publications for gene: DSTYK were set to 23862974
DDG2P v1.15 DSTYK Rebecca Foulger Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805; Autosomal Recessive Complicated Spastic Paraparesis SPG23
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P: Confirmed for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1. Probable for Autosomal Recessive Complicated Spastic Paraparesis SPG23 (Added to G2P in March 2019).
DDG2P v1.14 DSTYK Rebecca Foulger Tag watchlist tag was added to gene: DSTYK.
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: Multiple MOIs in Gene2Phenotype: 'monoallelic' for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, and 'biallelic' for Autosomal Recessive Complicated Spastic Paraparesis SPG23. Kept MOI in PanelApp as 'monoallelic' because 'CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1' is 'confirmed', and Autosomal Recessive Complicated Spastic Paraparesis SPG23 is 'probable'.
DDG2P v1.14 DSTYK Rebecca Foulger commented on gene: DSTYK: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
DDG2P v1.14 COG4 Rebecca Foulger commented on gene: COG4: New gene:disorder association added to DDG2P in March 2019: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic. (Note that Saul-Wilson syndrome disorder was already associated with COG4 in DD-G2P but with a 'gain of function' MOP. The new entry exists in addition).
DDG2P v1.14 CLCN4 Rebecca Foulger Classified gene: CLCN4 as Amber List (moderate evidence)
DDG2P v1.14 CLCN4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to reflect change in DD-G2P Disease confidence for INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY (was 'Possible', now 'Probable').
DDG2P v1.14 CLCN4 Rebecca Foulger Gene: clcn4 has been classified as Amber List (Moderate Evidence).
DDG2P v1.13 CLCN4 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to hemizygous to match new Allelic requirement in DD-G2P for the disorder INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY. The hemizygous MOI is consistent with CLCN4 on other PanelApp panels.
DDG2P v1.13 CLCN4 Rebecca Foulger Mode of inheritance for gene: CLCN4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.12 CACNA1E Rebecca Foulger Classified gene: CACNA1E as Green List (high evidence)
DDG2P v1.12 CACNA1E Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on new 'confirmed' gene-disease association added to DD-G2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. At the time of curation, the existing disorder (Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia) still has the DD-G2P Disease confidence of 'possible'.
DDG2P v1.12 CACNA1E Rebecca Foulger Gene: cacna1e has been classified as Green List (High Evidence).
DDG2P v1.11 CACNA1E Rebecca Foulger commented on gene: CACNA1E: New gene:disorder association added to DDG2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: activating. DDG2P mode of inheritance: monoallelic.
DDG2P v1.11 TTN Rebecca Foulger Publications for gene: TTN were set to 17444505; 29575618; 28040389
DDG2P v1.10 TTN Rebecca Foulger commented on gene: TTN: PMID:29691892 identify 30 patients from 27 families with 2 pathogenic TTN variants in trans. All patients had prenatal or early onset hypotonia and/or congenital contractures. Cardiac involvement was present in 46% of patients. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported.
DDG2P v1.10 TTN Rebecca Foulger Publications for gene: TTN were set to 17444505
DDG2P v1.9 TTN Rebecca Foulger commented on gene: TTN: PMID:28040389 (Fernández-Marmiesse et al 2017) report a newborn boy, first child of non-consanguineous parents with arthrogryposis multiplex congenita and severe axial hypotonia without cardiac involvement. The individual had a novel homozygous truncating variant c.38661_38665del in TTN, which is expressed only in the fetal skeletal isoform. A fetal ultrasound reported Clubfoot.
DDG2P v1.9 TTN Rebecca Foulger commented on gene: TTN: PMID:29575618 (Chervinsky et al 2018) evaluate a consanguineous family of Moslem Bedouin origin with lethal congenital contracture syndrome and a homozygous c.36122delC (p. P12041Lfs*20) variant in TTN. 8 affected individuals (newborns and fetuses) were studied. Six of the affecteds were diagnosed prenatally by fetal ultrasound and two were diagnosed at birth. One pregnancy was complicated with fetal hydrops, and polyhydramnios was noted in at least three affecteds.
DDG2P v1.9 TTN Lu Raymond commented on gene: TTN
DDG2P v1.9 NR2F2 Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotype from 'CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779' to 'CONGENITAL HEART DEFECTS and XX sex reversal' to match DD-Gene2Phenotype.
DDG2P v1.9 NR2F2 Rebecca Foulger Phenotypes for gene: NR2F2 were changed from CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779 to Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal
DDG2P v1.8 ASCC1 Julia Baptista reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26924529, 30327447, 28749478; Phenotypes: spinal muscular atrophy, arthrogryposis, fetal akinesia, hypotonia, contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
DDG2P v1.8 FBXW4 Rebecca Foulger Mode of pathogenicity for gene: FBXW4 was changed from part of contiguous gene duplication to Other
DDG2P v1.7 FARS2 Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to 'biallelic' to match OMIM and other PanelApp panels (no MOI listed in DD-G2P at the time of curation).
DDG2P v1.7 FARS2 Rebecca Foulger Mode of inheritance for gene: FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v1.6 FARS2 Rebecca Foulger reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.6 KCNJ8 Rebecca Foulger reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.5 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green
Mode of inheritance for gene: FARS2 was set to
Publications for gene: FARS2 were set to 29326872; 28043061; 27095821; 29126765; 27549011
Phenotypes for gene: FARS2 were set to Neurometabolic disorder due to FARS2 deficiency
DDG2P v1.5 KCNJ8 Rebecca Foulger gene: KCNJ8 was added
gene: KCNJ8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNJ8 were set to 24176758; 24700710; 25275207
Phenotypes for gene: KCNJ8 were set to Cantu syndrome
Mode of pathogenicity for gene: KCNJ8 was set to Other - please provide details in the comments
DDG2P v1.4 EHMT1 Rebecca Foulger Publications for gene: EHMT1 were set to 19264732; 16826528
DDG2P v1.3 EHMT1 Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotypes frp, '9Q SUBTELOMERIC DELETION SYNDROME 610253' to 'Kleefstra syndrome' to reflect DD-G2P update.
DDG2P v1.3 EHMT1 Rebecca Foulger Phenotypes for gene: EHMT1 were changed from 9Q SUBTELOMERIC DELETION SYNDROME 610253 to Kleefstra syndrome
DDG2P v1.2 STAG2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from monoallelic to X-linked to reflect change in DD-G2P, and to match other PanelApp panels.
DDG2P v1.2 STAG2 Rebecca Foulger Mode of inheritance for gene: STAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
DDG2P v1.0 Rebecca Foulger promoted panel to version 1.0
DDG2P v0.95 BGN Rebecca Foulger commented on gene: BGN: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia.
DDG2P v0.95 CHRNA2 Rebecca Foulger commented on gene: CHRNA2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT. CHRNA2 also rated 'possible' for NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT.
DDG2P v0.95 CACNB4 Rebecca Foulger commented on gene: CACNB4: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for JUVENILE MYOCLONIC EPILEPSY. CACNB4 also rated 'possible' for CACNB4-RELATED EPISODIC ATAXIA TYPE 2;CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY;EPISODIC ATAXIA TYPE 5.
DDG2P v0.95 ANO5 Rebecca Foulger commented on gene: ANO5: Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for MIYOSHI MUSCULAR DYSTROPHY TYPE 3; GNATHODIAPHYSEAL DYSPLASIA. ANO5 also rated 'possible' for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L.
DDG2P v0.95 KCNE1 Rebecca Foulger commented on gene: KCNE1: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for LONG QT SYNDROME-5, and DDG2P Disease confidence of 'both DD and IF' for JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2.
DDG2P v0.95 MYPN Rebecca Foulger commented on gene: MYPN: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Childhood-Onset, Slowly Progressive Nemaline Myopathy.
DDG2P v0.95 PIH1D3 Rebecca Foulger commented on gene: PIH1D3: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
DDG2P v0.95 TERC Rebecca Foulger commented on gene: TERC: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Dyskeratosis congenita, autosomal dominant 1.
DDG2P v0.95 TMEM199 Rebecca Foulger commented on gene: TMEM199: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for Disorder of Golgi homeostasis.
DDG2P v0.95 AFG3L2 Rebecca Foulger commented on gene: AFG3L2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for SPINOCEREBELLAR ATAXIA 28; ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE.
DDG2P v0.95 FMR1 Rebecca Foulger commented on gene: FMR1: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1. FMR1 also rated 'confirmed' for FRAGILE X SYNDROME.
DDG2P v0.95 SMAD4 Rebecca Foulger commented on gene: SMAD4: Changed rating to Amber to reflect DDG2P Disease confidence of 'both DD and IF' for JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME; JUVENILE POLYPOSIS SYNDROME. SMAD4 also rated 'confirmed' for MYHRE SYNDROME.
DDG2P v0.95 TIMM8A Rebecca Foulger commented on gene: TIMM8A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for JENSEN SYNDROME; MOHR-TRANEBJAERG SYNDROME.
DDG2P v0.95 THAP1 Rebecca Foulger commented on gene: THAP1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DYSTONIA 6, TORSION.
DDG2P v0.95 TGFB2 Rebecca Foulger commented on gene: TGFB2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LOEYS-DIETZ SYNDROME, TYPE 4.
DDG2P v0.95 SYNE1 Rebecca Foulger commented on gene: SYNE1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8.
DDG2P v0.95 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' forNEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC.
DDG2P v0.95 SNORD118 Rebecca Foulger commented on gene: SNORD118: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Leukoencephalopathy with cerebral calcification & cysts.
DDG2P v0.95 SMCHD1 Rebecca Foulger commented on gene: SMCHD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Isolated Arhinia/Bosma Arhinia syndrome.
DDG2P v0.95 SLC4A11 Rebecca Foulger commented on gene: SLC4A11: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4.
DDG2P v0.95 SLC4A1 Rebecca Foulger commented on gene: SLC4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR.
DDG2P v0.95 RRM2B Rebecca Foulger commented on gene: RRM2B: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Mitochondrial depletion syndrome.
DDG2P v0.95 RET Rebecca Foulger commented on gene: RET: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB.
DDG2P v0.95 POLD1 Rebecca Foulger commented on gene: POLD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM.
DDG2P v0.95 PLA2G6 Rebecca Foulger commented on gene: PLA2G6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B; INFANTILE NEUROAXONAL DYSTROPHY 1.
DDG2P v0.95 PDCD10 Rebecca Foulger commented on gene: PDCD10: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3.
DDG2P v0.95 NR5A1 Rebecca Foulger commented on gene: NR5A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for 46XY SEX REVERSAL 3; SPERMATOGENIC FAILURE 8.
DDG2P v0.95 MYO7A Rebecca Foulger commented on gene: MYO7A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for DEAFNESS AUTOSOMAL RECESSIVE TYPE 2; USHER SYNDROME TYPE 1B.
DDG2P v0.95 MYH8 Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE.
DDG2P v0.95 MYH6 Rebecca Foulger commented on gene: MYH6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
DDG2P v0.95 LMNA Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE.
DDG2P v0.95 LDB3 Rebecca Foulger commented on gene: LDB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4.
DDG2P v0.95 KRIT1 Rebecca Foulger commented on gene: KRIT1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1.
DDG2P v0.95 KIT Rebecca Foulger commented on gene: KIT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HUMAN PIEBALDISM.
DDG2P v0.95 KARS Rebecca Foulger commented on gene: KARS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B; DEAFNESS, AUTOSOMAL RECESSIVE 89.
DDG2P v0.95 HSPD1 Rebecca Foulger commented on gene: HSPD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKODYSTROPHY HYPOMYELINATING TYPE 4.
DDG2P v0.95 GJB3 Rebecca Foulger commented on gene: GJB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA; DEAFNESS AUTOSOMAL DOMINANT TYPE 2B; DEAFNESS, AUTOSOMAL RECESSIVE.
DDG2P v0.95 GBA Rebecca Foulger commented on gene: GBA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE.
DDG2P v0.95 FAM161A Rebecca Foulger commented on gene: FAM161A: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RETINITIS PIGMENTOSA 28.
DDG2P v0.95 DARS2 Rebecca Foulger commented on gene: DARS2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION.
DDG2P v0.95 COL4A2 Rebecca Foulger commented on gene: COL4A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PORENCEPHALY 2.
DDG2P v0.95 COL4A1 Rebecca Foulger commented on gene: COL4A1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PORENCEPHALY 1.
DDG2P v0.95 CLN6 Rebecca Foulger commented on gene: CLN6: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CEROID LIPOFUSCINOSIS, NEURONAL, 6;CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET.
DDG2P v0.95 CISD2 Rebecca Foulger commented on gene: CISD2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for WOLFRAM SYNDROME TYPE 2.
DDG2P v0.95 CDH1 Rebecca Foulger commented on gene: CDH1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for Blepharo-cheiro-dontic syndrome.
DDG2P v0.95 BRCA2 Rebecca Foulger commented on gene: BRCA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1.
DDG2P v0.95 BRCA1 Rebecca Foulger commented on gene: BRCA1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for INTELLECTUAL DISABILITY.
DDG2P v0.95 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for RAPID-ONSET DYSTONIA-PARKINSONISM;ALTERNATING HEMIPLEGIA OF CHILDHOOD.
DDG2P v0.95 ATP13A2 Rebecca Foulger commented on gene: ATP13A2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for PARKINSON DISEASE 9.
DDG2P v0.95 AR Rebecca Foulger commented on gene: AR: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SPINAL AND BULBAR MUSCULAR ATROPHY; ANDROGEN INSENSITIVITY SYNDROME.
DDG2P v0.95 AMER1 Rebecca Foulger commented on gene: AMER1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS.
DDG2P v0.95 ALDOB Rebecca Foulger commented on gene: ALDOB: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HEREDITARY FRUCTOSE INTOLERANCE.
DDG2P v0.95 ALAD Rebecca Foulger commented on gene: ALAD: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ACUTE HEPATIC PORPHYRIA.
DDG2P v0.95 AIRE Rebecca Foulger commented on gene: AIRE: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1.
DDG2P v0.95 AGXT Rebecca Foulger commented on gene: AGXT: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for HYPEROXALURIA, PRIMARY, TYPE 1.
DDG2P v0.95 ACTA2 Rebecca Foulger commented on gene: ACTA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for MOYAMOYA DISEASE 5; AORTIC ANEURYSM, FAMILIAL THORACIC 6.
DDG2P v0.95 ACADS Rebecca Foulger commented on gene: ACADS: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY.
DDG2P v0.95 ABCD1 Rebecca Foulger commented on gene: ABCD1: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ADRENOLEUKODYSTROPHY, X-LINKED.
DDG2P v0.94 FMR1 Rebecca Foulger Source Expert Review Amber was added to FMR1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SMAD4 Rebecca Foulger Source Expert Review Amber was added to SMAD4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 TIMM8A Rebecca Foulger Source Expert Review Amber was added to TIMM8A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 THAP1 Rebecca Foulger Source Expert Review Amber was added to THAP1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 TGFB2 Rebecca Foulger Source Expert Review Amber was added to TGFB2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SYNE1 Rebecca Foulger Source Expert Review Amber was added to SYNE1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SPTLC2 Rebecca Foulger Source Expert Review Amber was added to SPTLC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SNORD118 Rebecca Foulger Source Expert Review Amber was added to SNORD118.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SMCHD1 Rebecca Foulger Source Expert Review Amber was added to SMCHD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SLC4A11 Rebecca Foulger Source Expert Review Amber was added to SLC4A11.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 SLC4A1 Rebecca Foulger Source Expert Review Amber was added to SLC4A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 RRM2B Rebecca Foulger Source Expert Review Amber was added to RRM2B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 RET Rebecca Foulger Source Expert Review Amber was added to RET.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 POLD1 Rebecca Foulger Source Expert Review Amber was added to POLD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 PLA2G6 Rebecca Foulger Source Expert Review Amber was added to PLA2G6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 PDCD10 Rebecca Foulger Source Expert Review Amber was added to PDCD10.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 NR5A1 Rebecca Foulger Source Expert Review Amber was added to NR5A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 MYO7A Rebecca Foulger Source Expert Review Amber was added to MYO7A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 MYH8 Rebecca Foulger Source Expert Review Amber was added to MYH8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 MYH6 Rebecca Foulger Source Expert Review Amber was added to MYH6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 LMNA Rebecca Foulger Source Expert Review Amber was added to LMNA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 LDB3 Rebecca Foulger Source Expert Review Amber was added to LDB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 KRIT1 Rebecca Foulger Source Expert Review Amber was added to KRIT1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 KIT Rebecca Foulger Source Expert Review Amber was added to KIT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 KARS Rebecca Foulger Source Expert Review Amber was added to KARS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 HSPD1 Rebecca Foulger Source Expert Review Amber was added to HSPD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 GJB3 Rebecca Foulger Source Expert Review Amber was added to GJB3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 GBA Rebecca Foulger Source Expert Review Amber was added to GBA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 FAM161A Rebecca Foulger Source Expert Review Amber was added to FAM161A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 DARS2 Rebecca Foulger Source Expert Review Amber was added to DARS2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 COL4A2 Rebecca Foulger Source Expert Review Amber was added to COL4A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 COL4A1 Rebecca Foulger Source Expert Review Amber was added to COL4A1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 CLN6 Rebecca Foulger Source Expert Review Amber was added to CLN6.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 CISD2 Rebecca Foulger Source Expert Review Amber was added to CISD2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 CDH1 Rebecca Foulger Source Expert Review Amber was added to CDH1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 BRCA2 Rebecca Foulger Source Expert Review Amber was added to BRCA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 BRCA1 Rebecca Foulger Source Expert Review Amber was added to BRCA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ATP1A3 Rebecca Foulger Source Expert Review Amber was added to ATP1A3.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ATP13A2 Rebecca Foulger Source Expert Review Amber was added to ATP13A2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AR Rebecca Foulger Source Expert Review Amber was added to AR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AMER1 Rebecca Foulger Source Expert Review Amber was added to AMER1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ALDOB Rebecca Foulger Source Expert Review Amber was added to ALDOB.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ALAD Rebecca Foulger Source Expert Review Amber was added to ALAD.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AIRE Rebecca Foulger Source Expert Review Amber was added to AIRE.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 AGXT Rebecca Foulger Source Expert Review Amber was added to AGXT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ACTA2 Rebecca Foulger Source Expert Review Amber was added to ACTA2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ACADS Rebecca Foulger Source Expert Review Amber was added to ACADS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.94 ABCD1 Rebecca Foulger Source Expert Review Amber was added to ABCD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
DDG2P v0.93 UFC1 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given in DDG2P for UFC1 Disease: Severe early-onset encephalopathy with progressive microcephaly. Set MOI to 'biallelic' to match OMIM 'Neurodevelopmental disorder with spasticity and poor growth, 618076'.
DDG2P v0.93 UFC1 Rebecca Foulger Mode of inheritance for gene: UFC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.92 SAMD9 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for DDG2P SAMD9 Disease: MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy. Have set MOI to 'monoallelic' to match OMIM (MIRAGE syndrome, 617053).
DDG2P v0.92 SAMD9 Rebecca Foulger Mode of inheritance for gene: SAMD9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.91 RPL11 Rebecca Foulger Added comment: Comment on mode of inheritance: No MOI is given for RPL11 Disease: Diamond-Blackfan anemia with cleft palate and abnormal thumbs in DDG2P but have set MOI to 'Monoallelic' to match OMIM (MIM:612562) and other panels.
DDG2P v0.91 RPL11 Rebecca Foulger Mode of inheritance for gene: RPL11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.90 ISPD Louise Daugherty commented on gene: ISPD
DDG2P v0.90 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
DDG2P v0.90 EDAR Rebecca Foulger Added comment: Comment on mode of inheritance: At the time of curation, no MOI is listed in DD-G2P for EDAR. Note that in OMIM, Ectodermal dysplasia is associated with both recessive (MIM:224900) and dominant (MIM:129490) inheritance. However, have set MOI to 'biallelic' to match the current DD-G2P disorder name (Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive).
DDG2P v0.90 EDAR Rebecca Foulger Mode of inheritance for gene: EDAR was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.89 TWIST2 Rebecca Foulger Mode of inheritance for gene: TWIST2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.88 TWIST2 Rebecca Foulger Classified gene: TWIST2 as Green List (high evidence)
DDG2P v0.88 TWIST2 Rebecca Foulger Gene: twist2 has been classified as Green List (High Evidence).
DDG2P v0.87 TRAF7 Rebecca Foulger Classified gene: TRAF7 as Green List (high evidence)
DDG2P v0.87 TRAF7 Rebecca Foulger Gene: traf7 has been classified as Green List (High Evidence).
DDG2P v0.86 TBCE Rebecca Foulger Classified gene: TBCE as Green List (high evidence)
DDG2P v0.86 TBCE Rebecca Foulger Gene: tbce has been classified as Green List (High Evidence).
DDG2P v0.85 SIX1 Rebecca Foulger Classified gene: SIX1 as Green List (high evidence)
DDG2P v0.85 SIX1 Rebecca Foulger Gene: six1 has been classified as Green List (High Evidence).
DDG2P v0.84 PUF60 Rebecca Foulger Classified gene: PUF60 as Green List (high evidence)
DDG2P v0.84 PUF60 Rebecca Foulger Gene: puf60 has been classified as Green List (High Evidence).
DDG2P v0.83 MYT1L Rebecca Foulger Classified gene: MYT1L as Green List (high evidence)
DDG2P v0.83 MYT1L Rebecca Foulger Gene: myt1l has been classified as Green List (High Evidence).
DDG2P v0.82 MTOR Rebecca Foulger Classified gene: MTOR as Green List (high evidence)
DDG2P v0.82 MTOR Rebecca Foulger Gene: mtor has been classified as Green List (High Evidence).
DDG2P v0.81 MITF Rebecca Foulger Mode of inheritance for gene: MITF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.80 MITF Rebecca Foulger Classified gene: MITF as Green List (high evidence)
DDG2P v0.80 MITF Rebecca Foulger Gene: mitf has been classified as Green List (High Evidence).
DDG2P v0.79 MAGEL2 Rebecca Foulger Classified gene: MAGEL2 as Green List (high evidence)
DDG2P v0.79 MAGEL2 Rebecca Foulger Gene: magel2 has been classified as Green List (High Evidence).
DDG2P v0.78 MAFB Rebecca Foulger Classified gene: MAFB as Green List (high evidence)
DDG2P v0.78 MAFB Rebecca Foulger Gene: mafb has been classified as Green List (High Evidence).
DDG2P v0.77 LRP2 Rebecca Foulger Mode of inheritance for gene: LRP2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.76 LRP2 Rebecca Foulger Classified gene: LRP2 as Green List (high evidence)
DDG2P v0.76 LRP2 Rebecca Foulger Gene: lrp2 has been classified as Green List (High Evidence).
DDG2P v0.75 ITPR1 Rebecca Foulger Classified gene: ITPR1 as Green List (high evidence)
DDG2P v0.75 ITPR1 Rebecca Foulger Gene: itpr1 has been classified as Green List (High Evidence).
DDG2P v0.74 IL11RA Rebecca Foulger Classified gene: IL11RA as Green List (high evidence)
DDG2P v0.74 IL11RA Rebecca Foulger Gene: il11ra has been classified as Green List (High Evidence).
DDG2P v0.73 IFIH1 Rebecca Foulger Classified gene: IFIH1 as Green List (high evidence)
DDG2P v0.73 IFIH1 Rebecca Foulger Gene: ifih1 has been classified as Green List (High Evidence).
DDG2P v0.72 GJA1 Rebecca Foulger Classified gene: GJA1 as Green List (high evidence)
DDG2P v0.72 GJA1 Rebecca Foulger Gene: gja1 has been classified as Green List (High Evidence).
DDG2P v0.71 FBN1 Rebecca Foulger Classified gene: FBN1 as Green List (high evidence)
DDG2P v0.71 FBN1 Rebecca Foulger Gene: fbn1 has been classified as Green List (High Evidence).
DDG2P v0.70 EYA1 Rebecca Foulger Classified gene: EYA1 as Green List (high evidence)
DDG2P v0.70 EYA1 Rebecca Foulger Gene: eya1 has been classified as Green List (High Evidence).
DDG2P v0.69 ERCC4 Rebecca Foulger Classified gene: ERCC4 as Green List (high evidence)
DDG2P v0.69 ERCC4 Rebecca Foulger Gene: ercc4 has been classified as Green List (High Evidence).
DDG2P v0.68 DNMT3A Rebecca Foulger Classified gene: DNMT3A as Green List (high evidence)
DDG2P v0.68 DNMT3A Rebecca Foulger Gene: dnmt3a has been classified as Green List (High Evidence).
DDG2P v0.67 DEAF1 Rebecca Foulger Classified gene: DEAF1 as Green List (high evidence)
DDG2P v0.67 DEAF1 Rebecca Foulger Gene: deaf1 has been classified as Green List (High Evidence).
DDG2P v0.66 CRYGD Rebecca Foulger Classified gene: CRYGD as Green List (high evidence)
DDG2P v0.66 CRYGD Rebecca Foulger Gene: crygd has been classified as Green List (High Evidence).
DDG2P v0.65 CRYGC Rebecca Foulger Classified gene: CRYGC as Green List (high evidence)
DDG2P v0.65 CRYGC Rebecca Foulger Gene: crygc has been classified as Green List (High Evidence).
DDG2P v0.64 CRYBA4 Rebecca Foulger Classified gene: CRYBA4 as Green List (high evidence)
DDG2P v0.64 CRYBA4 Rebecca Foulger Gene: cryba4 has been classified as Green List (High Evidence).
DDG2P v0.63 COL9A3 Rebecca Foulger Classified gene: COL9A3 as Green List (high evidence)
DDG2P v0.63 COL9A3 Rebecca Foulger Gene: col9a3 has been classified as Green List (High Evidence).
DDG2P v0.62 COL2A1 Rebecca Foulger Classified gene: COL2A1 as Green List (high evidence)
DDG2P v0.62 COL2A1 Rebecca Foulger Gene: col2a1 has been classified as Green List (High Evidence).
DDG2P v0.61 COG4 Rebecca Foulger Mode of inheritance for gene: COG4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.60 COG4 Rebecca Foulger Classified gene: COG4 as Green List (high evidence)
DDG2P v0.60 COG4 Rebecca Foulger Gene: cog4 has been classified as Green List (High Evidence).
DDG2P v0.59 ATAD3A Rebecca Foulger Mode of inheritance for gene: ATAD3A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.58 ATAD3A Rebecca Foulger Classified gene: ATAD3A as Green List (high evidence)
DDG2P v0.58 ATAD3A Rebecca Foulger Gene: atad3a has been classified as Green List (High Evidence).
DDG2P v0.57 ACTB Rebecca Foulger Classified gene: ACTB as Green List (high evidence)
DDG2P v0.57 ACTB Rebecca Foulger Gene: actb has been classified as Green List (High Evidence).
DDG2P v0.55 TWIST2 Rebecca Foulger edited their review of gene: TWIST2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ABLEPHARON MACROSTOMIA SYNDROME. MOI is monoallelic for ABLEPHARON MACROSTOMIA SYNDROME and biallelic for SETLEIS SYNDROME; changed MOI from 'both monoallelic and biallelic' to monoallelic, to match confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 TRAF7 Rebecca Foulger edited their review of gene: TRAF7: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Developmental Delay, Congenital Anomalies, and Dysmorphic Features.; Changed rating: GREEN
DDG2P v0.55 TBCE Rebecca Foulger edited their review of gene: TBCE: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; KENNY-CAFFEY SYNDROME TYPE 1.; Changed rating: GREEN
DDG2P v0.55 SIX1 Rebecca Foulger edited their review of gene: SIX1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23.; Changed rating: GREEN
DDG2P v0.55 PUF60 Rebecca Foulger edited their review of gene: PUF60: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for PUF60 syndrome.; Changed rating: GREEN
DDG2P v0.55 MYT1L Rebecca Foulger edited their review of gene: MYT1L: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MYT1L syndrome.; Changed rating: GREEN
DDG2P v0.55 MTOR Rebecca Foulger edited their review of gene: MTOR: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Smith-Kingsmore syndrome.; Changed rating: GREEN
DDG2P v0.55 MITF Rebecca Foulger edited their review of gene: MITF: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is monoallelic for TIETZ SYNDROME; WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; WAARDENBURG SYNDROME TYPE 2A. MOI is biallelic for Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; changed MOI to monoallelic to match confirmed disorders only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 MAGEL2 Rebecca Foulger edited their review of gene: MAGEL2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Schaaf-Yang syndrome.; Changed rating: GREEN
DDG2P v0.55 MAFB Rebecca Foulger edited their review of gene: MAFB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME.; Changed rating: GREEN
DDG2P v0.55 LRP2 Rebecca Foulger edited their review of gene: LRP2: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for DONNAI-BARROW SYNDROME. MOI is biallelic for DONNAI-BARROW SYNDROME and monoallelic for INTELLECTUAL DISABILITY: changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match biallelic confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.55 ITPR1 Rebecca Foulger edited their review of gene: ITPR1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for biallelic and monoallelic Gillespie Syndrome. MOI kept as 'both monoallelic and biallelic' .; Changed rating: GREEN
DDG2P v0.55 IL11RA Rebecca Foulger edited their review of gene: IL11RA: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Autosomal Recessive Craniosynostosis.; Changed rating: GREEN
DDG2P v0.55 IFIH1 Rebecca Foulger edited their review of gene: IFIH1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AICARDI-GOUTIERES SYNDROME 7.; Changed rating: GREEN
DDG2P v0.55 GJA1 Rebecca Foulger edited their review of gene: GJA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA; AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA; HALLERMANN-STREIFF SYNDROME; HYPOPLASTIC LEFT HEART SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN
DDG2P v0.55 FBN1 Rebecca Foulger edited their review of gene: FBN1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME. Confirmed disorders have mix of monoallelic and biallelic inheritance, so 'both monoallelic and biallelic' MOI kept.; Changed rating: GREEN
DDG2P v0.55 EYA1 Rebecca Foulger edited their review of gene: EYA1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BRANCHIOOTORENAL SYNDROME TYPE 1.; Changed rating: GREEN
DDG2P v0.55 ERCC4 Rebecca Foulger edited their review of gene: ERCC4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for XERODERMA PIGMENTOSUM, GROUP F.; Changed rating: GREEN
DDG2P v0.55 ERBB3 Rebecca Foulger commented on gene: ERBB3: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Hirschprung disease with intestinal pseudo-obstruction.
DDG2P v0.55 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY).; Changed rating: GREEN
DDG2P v0.55 DEAF1 Rebecca Foulger edited their review of gene: DEAF1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MENTAL RETARDATION, AUTOSOMAL DOMINANT 24.; Changed rating: GREEN
DDG2P v0.55 CRYGD Rebecca Foulger edited their review of gene: CRYGD: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT; CATARACT CONGENITAL CERULEAN TYPE 3. ; Changed rating: GREEN
DDG2P v0.55 CRYGC Rebecca Foulger edited their review of gene: CRYGC: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT AUTOSOMAL DOMINANT.; Changed rating: GREEN
DDG2P v0.55 CRYBA4 Rebecca Foulger edited their review of gene: CRYBA4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for CATARACT ZONULAR TYPE 2.; Changed rating: GREEN
DDG2P v0.55 CRADD Rebecca Foulger commented on gene: CRADD: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Megalencephaly with Variant Lissencephaly.
DDG2P v0.55 COL9A3 Rebecca Foulger edited their review of gene: COL9A3: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3.; Changed rating: GREEN
DDG2P v0.55 COL2A1 Rebecca Foulger edited their review of gene: COL2A1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for ACHONDROGENESIS TYPE 2; KNIEST DYSPLASIA; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE; RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT;SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA.; Changed rating: GREEN
DDG2P v0.55 COG4 Rebecca Foulger edited their review of gene: COG4: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for COG4-CDG. MOI is biallelic for COG4-CDG and monoallelic for Saul-Wilson syndrome; changed MOI from 'both biallelic and monoallelic' to just 'biallelic' to match MOI of confirmed disorder only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.55 CLTC Rebecca Foulger commented on gene: CLTC: Multiple DD-Gene2Phenotype ratings (probable; possible). Kept rating as Amber to reflect highest DD-G2P Disease confidence: probable for Epilepsy and intellectual disability.
DDG2P v0.55 ATAD3A Rebecca Foulger edited their review of gene: ATAD3A: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for monoallelic ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Changed MOI from 'both monoallelic and biallelic' to just monoallelic, because the biallelic ATAD3A disorder has a 'probable' DDG2P disease confidence.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v0.55 ACTB Rebecca Foulger edited their review of gene: ACTB: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for BARAITSER-WINTER SYNDROME.; Changed rating: GREEN
DDG2P v0.54 NPHP3 Rebecca Foulger Source DD-Gene2Phenotype was added to NPHP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
DDG2P v0.54 DYNC2H1 Rebecca Foulger Source DD-Gene2Phenotype was added to DYNC2H1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
DDG2P v0.53 PHACTR1 Rebecca Foulger reviewed gene: PHACTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.52 PHACTR1 Rebecca Foulger gene: PHACTR1 was added
gene: PHACTR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: PHACTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PHACTR1 were set to 23033978; 30256902
Phenotypes for gene: PHACTR1 were set to PHACTR1-associated neurodevelopment disorder
Mode of pathogenicity for gene: PHACTR1 was set to Other - please provide details in the comments