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DDG2P v0.1 CNKSR1 Rebecca Foulger gene: CNKSR1 was added
gene: CNKSR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CNKSR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CNKSR1 were set to 21937992
Phenotypes for gene: CNKSR1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CLTC Rebecca Foulger Added phenotypes Epilepsy and intellectual disability for gene: CLTC
Publications for gene CLTC were changed from 26822784 to 29100083
DDG2P v0.1 CLTC Rebecca Foulger gene: CLTC was added
gene: CLTC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLTC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLTC were set to 26822784
Phenotypes for gene: CLTC were set to Overgrowth intellectual disability
DDG2P v0.1 CLPP Rebecca Foulger gene: CLPP was added
gene: CLPP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPP were set to 23541340
Phenotypes for gene: CLPP were set to PERRAULT SYNDROME
Mode of pathogenicity for gene: CLPP was set to Other - please provide details in the comments
DDG2P v0.1 CLPB Rebecca Foulger gene: CLPB was added
gene: CLPB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLPB were set to 25597510
Phenotypes for gene: CLPB were set to 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271
DDG2P v0.1 CLP1 Rebecca Foulger gene: CLP1 was added
gene: CLP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLP1 were set to 24766809
Phenotypes for gene: CLP1 were set to PONTOCEREBELLAR HYPOPLASIA, TYPE 10 615803
Mode of pathogenicity for gene: CLP1 was set to Other - please provide details in the comments
DDG2P v0.1 CLN8 Rebecca Foulger Added phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003 for gene: CLN8
Publications for gene CLN8 were changed from 16570191; 19431184 to 10508524
DDG2P v0.1 CLN8 Rebecca Foulger gene: CLN8 was added
gene: CLN8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN8 were set to 16570191; 19431184
Phenotypes for gene: CLN8 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143
DDG2P v0.1 CLN6 Rebecca Foulger Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300 for gene: CLN6
DDG2P v0.1 CLN6 Rebecca Foulger gene: CLN6 was added
gene: CLN6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780
DDG2P v0.1 CLN5 Rebecca Foulger gene: CLN5 was added
gene: CLN5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN5 were set to 18684116; 20157158; 15728307; 9662406
Phenotypes for gene: CLN5 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 5 256731
DDG2P v0.1 CLN3 Rebecca Foulger gene: CLN3 was added
gene: CLN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLN3 were set to 7887420; 7553855; 19489875; 9450775
Phenotypes for gene: CLN3 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200
DDG2P v0.1 CLMP Rebecca Foulger gene: CLMP was added
gene: CLMP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLMP were set to 22155368
Phenotypes for gene: CLMP were set to CONGENITAL SHORT BOWEL SYNDROME 615237
DDG2P v0.1 CLIC2 Rebecca Foulger gene: CLIC2 was added
gene: CLIC2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLIC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CLIC2 were set to 22814392
Phenotypes for gene: CLIC2 were set to Mental retardation, X-linked, syndromic 32
Mode of pathogenicity for gene: CLIC2 was set to Other - please provide details in the comments
DDG2P v0.1 CLDN19 Rebecca Foulger gene: CLDN19 was added
gene: CLDN19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLDN19 were set to 17033971
Phenotypes for gene: CLDN19 were set to HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190
Mode of pathogenicity for gene: CLDN19 was set to Other - please provide details in the comments
DDG2P v0.1 CLCNKB Rebecca Foulger gene: CLCNKB was added
gene: CLCNKB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCNKB were set to 15044642; 18310267
Phenotypes for gene: CLCNKB were set to BARTTER SYNDROME TYPE 4B 613090
DDG2P v0.1 CLCNKA Rebecca Foulger gene: CLCNKA was added
gene: CLCNKA was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLCNKA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKA were set to BARTTER SYNDROME TYPE 4B 613090
DDG2P v0.1 CLCN7 Rebecca Foulger gene: CLCN7 was added
gene: CLCN7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CLCN7 were set to 17033731; 11207362; 11741829
Phenotypes for gene: CLCN7 were set to CLCN7-RELATED OSTEOPETROSIS 611490
DDG2P v0.1 CLCN4 Rebecca Foulger gene: CLCN4 was added
gene: CLCN4 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CLCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CLCN4 were set to 23647072; 25644381
Phenotypes for gene: CLCN4 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: CLCN4 was set to Other - please provide details in the comments
DDG2P v0.1 CKAP2L Rebecca Foulger gene: CKAP2L was added
gene: CKAP2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440
DDG2P v0.1 CIT Rebecca Foulger gene: CIT was added
gene: CIT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIT were set to 27453578
Phenotypes for gene: CIT were set to PRIMARY MICROCEPHALY 615414
Mode of pathogenicity for gene: CIT was set to Other - please provide details in the comments
DDG2P v0.1 CISD2 Rebecca Foulger gene: CISD2 was added
gene: CISD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to WOLFRAM SYNDROME TYPE 2 604928
DDG2P v0.1 CIC Rebecca Foulger gene: CIC was added
gene: CIC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CIC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CIC were set to CAPICUA, DROSOPHILA, HOMOLOG OF 612082
Mode of pathogenicity for gene: CIC was set to Other - please provide details in the comments
DDG2P v0.1 CIB2 Rebecca Foulger Added phenotypes NONSYNDROMIC DEAFNESS DFNB48 609439 for gene: CIB2
Publications for gene CIB2 were changed from 23023331; 18505454 to 23023331
DDG2P v0.1 CIB2 Rebecca Foulger gene: CIB2 was added
gene: CIB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIB2 were set to 23023331; 18505454
Phenotypes for gene: CIB2 were set to USHER SYNDROME TYPE 1J 614869
DDG2P v0.1 CHUK Rebecca Foulger gene: CHUK was added
gene: CHUK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHUK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHUK were set to 20961246
Phenotypes for gene: CHUK were set to COCOON SYNDROME 613630
DDG2P v0.1 CHSY1 Rebecca Foulger gene: CHSY1 was added
gene: CHSY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHSY1 were set to 9823490; 19952732; 21129727; 21129728
Phenotypes for gene: CHSY1 were set to TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282
DDG2P v0.1 CHST3 Rebecca Foulger gene: CHST3 was added
gene: CHST3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST3 were set to 19320654; 15098240; 18698629; 18513679; 112567; 20830804
Phenotypes for gene: CHST3 were set to SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095
DDG2P v0.1 CHST14 Rebecca Foulger gene: CHST14 was added
gene: CHST14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776
DDG2P v0.1 CHRNG Rebecca Foulger gene: CHRNG was added
gene: CHRNG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRNG were set to 16826520
Phenotypes for gene: CHRNG were set to MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
DDG2P v0.1 CHRNB2 Rebecca Foulger Added phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 for gene: CHRNB2
Publications for gene CHRNB2 were changed from to 11062464
DDG2P v0.1 CHRNB2 Rebecca Foulger gene: CHRNB2 was added
gene: CHRNB2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNB2 were set to CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375
Mode of pathogenicity for gene: CHRNB2 was set to Other - please provide details in the comments
DDG2P v0.1 CHRNA4 Rebecca Foulger gene: CHRNA4 was added
gene: CHRNA4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHRNA4 were set to 7647781
Phenotypes for gene: CHRNA4 were set to NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513
Mode of pathogenicity for gene: CHRNA4 was set to Other - please provide details in the comments
DDG2P v0.1 CHRNA2 Rebecca Foulger Added phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 for gene: CHRNA2
DDG2P v0.1 CHRNA2 Rebecca Foulger gene: CHRNA2 was added
gene: CHRNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHRNA2 were set to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607
Mode of pathogenicity for gene: CHRNA2 was set to Other - please provide details in the comments
DDG2P v0.1 CHRNA1 Rebecca Foulger gene: CHRNA1 was added
gene: CHRNA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290
DDG2P v0.1 CHRDL1 Rebecca Foulger gene: CHRDL1 was added
gene: CHRDL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CHRDL1 were set to 22284829
Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED 309300
DDG2P v0.1 CHMP1A Rebecca Foulger gene: CHMP1A was added
gene: CHMP1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHMP1A were set to 23023333
Phenotypes for gene: CHMP1A were set to PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961
DDG2P v0.1 CHM Rebecca Foulger gene: CHM was added
gene: CHM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CHM were set to 7981670; 1598901; 1302003; 8477262; 12827496; 21905166
Phenotypes for gene: CHM were set to CHOROIDEREMIA 303100
DDG2P v0.1 CHD8 Rebecca Foulger gene: CHD8 was added
gene: CHD8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD8 were set to 23160955
Phenotypes for gene: CHD8 were set to AUTISM 209850
DDG2P v0.1 CHD7 Rebecca Foulger Added phenotypes CHARGE SYNDROME 214800 for gene: CHD7
Publications for gene CHD7 were changed from 18834967 to 17334995; 18978652; 17937444; 17661815; 16400610; 15300250; 18074359
DDG2P v0.1 CHD7 Rebecca Foulger Added phenotypes IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110 for gene: CHD7
DDG2P v0.1 CHD7 Rebecca Foulger gene: CHD7 was added
gene: CHD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD7 were set to 18834967
Phenotypes for gene: CHD7 were set to KALLMANN SYNDROME TYPE 5 612370
DDG2P v0.1 CHD4 Rebecca Foulger gene: CHD4 was added
gene: CHD4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD4 were set to 27616479; 27479907
Phenotypes for gene: CHD4 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
DDG2P v0.1 CHD3 Rebecca Foulger gene: CHD3 was added
gene: CHD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD3 were set to Apraxia of speech
Mode of pathogenicity for gene: CHD3 was set to Other - please provide details in the comments
DDG2P v0.1 CHD2 Rebecca Foulger gene: CHD2 was added
gene: CHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD2 were set to 23708187
Phenotypes for gene: CHD2 were set to EPILEPTIC ENCEPHALOPATHY
DDG2P v0.1 CHAMP1 Rebecca Foulger gene: CHAMP1 was added
gene: CHAMP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CHAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHAMP1 were set to 26340335
Phenotypes for gene: CHAMP1 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 CFL2 Rebecca Foulger gene: CFL2 was added
gene: CFL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFL2 were set to 17160903
Phenotypes for gene: CFL2 were set to NEMALINE MYOPATHY 7 610687
Mode of pathogenicity for gene: CFL2 was set to Other - please provide details in the comments
DDG2P v0.1 CFC1 Rebecca Foulger gene: CFC1 was added
gene: CFC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CFC1 were set to CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372
DDG2P v0.1 CEP83 Rebecca Foulger gene: CEP83 was added
gene: CEP83 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706
Phenotypes for gene: CEP83 were set to INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY
DDG2P v0.1 CEP63 Rebecca Foulger gene: CEP63 was added
gene: CEP63 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CEP63 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP63 were set to 21983783
Phenotypes for gene: CEP63 were set to SECKEL SYNDROME 6 614728
DDG2P v0.1 CEP57 Rebecca Foulger gene: CEP57 was added
gene: CEP57 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP57 were set to 21552266; 12116237
Phenotypes for gene: CEP57 were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114
DDG2P v0.1 CEP41 Rebecca Foulger gene: CEP41 was added
gene: CEP41 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP41 were set to 22246503
Phenotypes for gene: CEP41 were set to JOUBERT SYNDROME 15 614464
DDG2P v0.1 CEP290 Rebecca Foulger Added phenotypes MECKEL SYNDROME TYPE 4 611134 for gene: CEP290
Publications for gene CEP290 were changed from 16682970; 16682973; 17564967 to 17705300; 17564974
DDG2P v0.1 CEP290 Rebecca Foulger Added phenotypes JOUBERT SYNDROME TYPE 5 610188 for gene: CEP290
Publications for gene CEP290 were changed from 16909394; 17554762 to 16682970; 16682973; 17564967
DDG2P v0.1 CEP290 Rebecca Foulger Added phenotypes LEBER CONGENITAL AMAUROSIS TYPE 10 611755 for gene: CEP290
Publications for gene CEP290 were changed from 16682973 to 16909394; 17554762
DDG2P v0.1 CEP290 Rebecca Foulger Added phenotypes SENIOR-LOKEN SYNDROME TYPE 6 610189 for gene: CEP290
Publications for gene CEP290 were changed from to 16682973
DDG2P v0.1 CEP290 Rebecca Foulger gene: CEP290 was added
gene: CEP290 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to BARDET-BIEDL SYNDROME TYPE 14 209900
DDG2P v0.1 CEP152 Rebecca Foulger Added phenotypes SECKEL SYNDROME TYPE 5 613823 for gene: CEP152
Publications for gene CEP152 were changed from to 21131973
DDG2P v0.1 CEP152 Rebecca Foulger gene: CEP152 was added
gene: CEP152 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to MICROCEPHALY PRIMARY TYPE 4 604321
DDG2P v0.1 CEP135 Rebecca Foulger gene: CEP135 was added
gene: CEP135 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CEP135 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP135 were set to 22521416
Phenotypes for gene: CEP135 were set to PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673
DDG2P v0.1 CEP104 Rebecca Foulger gene: CEP104 was added
gene: CEP104 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to JOUBERT SYNDROME 614615
DDG2P v0.1 CENPJ Rebecca Foulger Added phenotypes SECKEL SYNDROME TYPE 4 613676 for gene: CENPJ
Publications for gene CENPJ were changed from 15793586; 16900296; 20978018; 12843329 to 20522431
DDG2P v0.1 CENPJ Rebecca Foulger gene: CENPJ was added
gene: CENPJ was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPJ were set to 15793586; 16900296; 20978018; 12843329
Phenotypes for gene: CENPJ were set to MICROCEPHALY PRIMARY TYPE 6 608393
DDG2P v0.1 CENPF Rebecca Foulger gene: CENPF was added
gene: CENPF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 27300082; 26820108; 28407396
Phenotypes for gene: CENPF were set to Stromme syndrome
DDG2P v0.1 CDT1 Rebecca Foulger gene: CDT1 was added
gene: CDT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDT1 were set to 11992493; 21358632
Phenotypes for gene: CDT1 were set to MEIER-GORLIN SYNDROME 4 613804
DDG2P v0.1 CDON Rebecca Foulger gene: CDON was added
gene: CDON was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDON were set to 21802063
Phenotypes for gene: CDON were set to HOLOPROSENCEPHALY 11 614226
Mode of pathogenicity for gene: CDON was set to Other - please provide details in the comments
DDG2P v0.1 CDKN1C Rebecca Foulger Added phenotypes IMAGe Syndrome for gene: CDKN1C
Publications for gene CDKN1C were changed from 8841187; 9341892; 14997421; 20503313 to 22634751
DDG2P v0.1 CDKN1C Rebecca Foulger gene: CDKN1C was added
gene: CDKN1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: CDKN1C were set to 8841187; 9341892; 14997421; 20503313
Phenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME 130650
DDG2P v0.1 CDKL5 Rebecca Foulger gene: CDKL5 was added
gene: CDKL5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDKL5 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: CDKL5 were set to 19793311; 15689447; 17993579; 16611748; 15492925; 15499549; 18809835; 16813600; 19396824; 19241098
Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672
DDG2P v0.1 CDK5RAP2 Rebecca Foulger gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
DDG2P v0.1 CDK16 Rebecca Foulger gene: CDK16 was added
gene: CDK16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CDK16 were set to 25644381
Phenotypes for gene: CDK16 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 CDK13 Rebecca Foulger gene: CDK13 was added
gene: CDK13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDK13 were set to 27479907
Phenotypes for gene: CDK13 were set to Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
Mode of pathogenicity for gene: CDK13 was set to Other - please provide details in the comments
DDG2P v0.1 CDK10 Rebecca Foulger gene: CDK10 was added
gene: CDK10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 29130579; 28886341
Phenotypes for gene: CDK10 were set to Severe Growth Retardation, Spine Malformations, and Developmental Delays
DDG2P v0.1 CDH3 Rebecca Foulger Added phenotypes HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 for gene: CDH3
Publications for gene CDH3 were changed from 15805154 to 11544476; 12445216
DDG2P v0.1 CDH3 Rebecca Foulger gene: CDH3 was added
gene: CDH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH3 were set to 15805154
Phenotypes for gene: CDH3 were set to EEM SYNDROME 280238
DDG2P v0.1 CDH23 Rebecca Foulger Added phenotypes USHER SYNDROME TYPE 1D 601067 for gene: CDH23
Publications for gene CDH23 were changed from 12075507; 15829536; 11090341; 17850630 to 11090341; 15537665; 21228398; 11138009
DDG2P v0.1 CDH23 Rebecca Foulger gene: CDH23 was added
gene: CDH23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDH23 were set to 12075507; 15829536; 11090341; 17850630
Phenotypes for gene: CDH23 were set to DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386
DDG2P v0.1 CDH15 Rebecca Foulger gene: CDH15 was added
gene: CDH15 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CDH15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH15 were set to 19012874; 26506440
Phenotypes for gene: CDH15 were set to MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 612580
DDG2P v0.1 CDH1 Rebecca Foulger gene: CDH1 was added
gene: CDH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH1 were set to 100000
Phenotypes for gene: CDH1 were set to Blepharo-cheiro-dontic syndrome
Mode of pathogenicity for gene: CDH1 was set to Other - please provide details in the comments
DDG2P v0.1 CDC6 Rebecca Foulger gene: CDC6 was added
gene: CDC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC6 were set to 11477602
Phenotypes for gene: CDC6 were set to MEIER-GORLIN SYNDROME 5 613805
DDG2P v0.1 CDC45 Rebecca Foulger gene: CDC45 was added
gene: CDC45 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDC45 were set to 27374770
Phenotypes for gene: CDC45 were set to Meier-Gorlin Syndrome and Craniosynostosis
DDG2P v0.1 CD96 Rebecca Foulger gene: CD96 was added
gene: CD96 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CD96 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CD96 were set to 17847009
Phenotypes for gene: CD96 were set to C SYNDROME 211750
DDG2P v0.1 CD151 Rebecca Foulger gene: CD151 was added
gene: CD151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CD151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD151 were set to 15265795
Phenotypes for gene: CD151 were set to NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057
DDG2P v0.1 CCNO Rebecca Foulger gene: CCNO was added
gene: CCNO was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCNO were set to 24747639
Phenotypes for gene: CCNO were set to CILIARY DYSKINESIA, PRIMARY, 29 615872
DDG2P v0.1 CCND2 Rebecca Foulger gene: CCND2 was added
gene: CCND2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CCND2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387
Mode of pathogenicity for gene: CCND2 was set to Other - please provide details in the comments
DDG2P v0.1 CCNA2 Rebecca Foulger gene: CCNA2 was added
gene: CCNA2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CCNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCNA2 were set to 21937992
Phenotypes for gene: CCNA2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CCDC88C Rebecca Foulger gene: CCDC88C was added
gene: CCDC88C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC88C were set to 23042809
Phenotypes for gene: CCDC88C were set to HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600
DDG2P v0.1 CCDC88A Rebecca Foulger gene: CCDC88A was added
gene: CCDC88A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC88A was set to
Publications for gene: CCDC88A were set to 26917597
Phenotypes for gene: CCDC88A were set to PEHO-like syndrome
DDG2P v0.1 CCDC8 Rebecca Foulger gene: CCDC8 was added
gene: CCDC8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC8 were set to 21737058
Phenotypes for gene: CCDC8 were set to THREE M SYNDROME 3 614205
DDG2P v0.1 CCDC78 Rebecca Foulger gene: CCDC78 was added
gene: CCDC78 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC78 were set to 22818856
Phenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807
DDG2P v0.1 CCDC65 Rebecca Foulger gene: CCDC65 was added
gene: CCDC65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC65 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 CCDC40 Rebecca Foulger gene: CCDC40 was added
gene: CCDC40 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC40 were set to 21131974
Phenotypes for gene: CCDC40 were set to CILIARY DYSKINESIA, PRIMARY, 15 613808
DDG2P v0.1 CCDC39 Rebecca Foulger gene: CCDC39 was added
gene: CCDC39 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC39 were set to 21131972
Phenotypes for gene: CCDC39 were set to CILIARY DYSKINESIA, PRIMARY, 14 613807
DDG2P v0.1 CCDC22 Rebecca Foulger gene: CCDC22 was added
gene: CCDC22 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: CCDC22 was set to Other - please provide details in the comments
DDG2P v0.1 CCDC151 Rebecca Foulger gene: CCDC151 was added
gene: CCDC151 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC151 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC151 were set to 25192045
Phenotypes for gene: CCDC151 were set to PRIMARY CILLARY DYSKINEASIA 616037
DDG2P v0.1 CCDC115 Rebecca Foulger gene: CCDC115 was added
gene: CCDC115 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC115 were set to 26833332
Phenotypes for gene: CCDC115 were set to Disorder of Golgi homeostasis
DDG2P v0.1 CCDC114 Rebecca Foulger gene: CCDC114 was added
gene: CCDC114 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC114 were set to 23261303; 23261302
Phenotypes for gene: CCDC114 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 CCDC103 Rebecca Foulger gene: CCDC103 was added
gene: CCDC103 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC103 were set to 22581229
Phenotypes for gene: CCDC103 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 CCBE1 Rebecca Foulger gene: CCBE1 was added
gene: CCBE1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCBE1 were set to 19935664
Phenotypes for gene: CCBE1 were set to HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510
DDG2P v0.1 CC2D2A Rebecca Foulger Added phenotypes JOUBERT SYNDROME 9 612285 for gene: CC2D2A
Publications for gene CC2D2A were changed from 2929661; 19574260; 8862632 to 18950740; 18387594; 22246503
DDG2P v0.1 CC2D2A Rebecca Foulger Added phenotypes COACH SYNDROME 216360 for gene: CC2D2A
Publications for gene CC2D2A were changed from 18513680; 20671153 to 2929661; 19574260; 8862632
DDG2P v0.1 CC2D2A Rebecca Foulger gene: CC2D2A was added
gene: CC2D2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D2A were set to 18513680; 20671153
Phenotypes for gene: CC2D2A were set to MECKEL SYNDROME, TYPE 6 612284
DDG2P v0.1 CC2D1A Rebecca Foulger gene: CC2D1A was added
gene: CC2D1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CC2D1A were set to 16033914
Phenotypes for gene: CC2D1A were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443
DDG2P v0.1 CBS Rebecca Foulger gene: CBS was added
gene: CBS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 9361025; 7506602; 8755636; 10780316; 1301198; 16479318; 8990018; 14635102; 8353501; 8528202
Phenotypes for gene: CBS were set to CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200
DDG2P v0.1 CBL Rebecca Foulger gene: CBL was added
gene: CBL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 20694012; 20619386; 20543203
Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563
Mode of pathogenicity for gene: CBL was set to Other - please provide details in the comments
DDG2P v0.1 CAV1 Rebecca Foulger gene: CAV1 was added
gene: CAV1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CAV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAV1 were set to CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 612526
DDG2P v0.1 CASP2 Rebecca Foulger gene: CASP2 was added
gene: CASP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to 21937992
Phenotypes for gene: CASP2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CASK Rebecca Foulger Added phenotypes MRX WITH/WITHOUT NYSTAGMUS 300749 for gene: CASK
Publications for gene CASK were changed from 19377476; 19200522; 20029458 to 21954287; 19165920
DDG2P v0.1 CASK Rebecca Foulger Added phenotypes FG SYNDROME TYPE 4 300422 for gene: CASK
Publications for gene CASK were changed from 21954287; 19165920 to 19377476; 19200522; 20029458
DDG2P v0.1 CASK Rebecca Foulger gene: CASK was added
gene: CASK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CASK 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: CASK were set to 21954287; 19165920
Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED 300749
DDG2P v0.1 CARS2 Rebecca Foulger gene: CARS2 was added
gene: CARS2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CARS2 were set to 25787132; 25361775
Phenotypes for gene: CARS2 were set to Epileptic encephalopathy with complex movement disorder and regression
DDG2P v0.1 CAPRIN1 Rebecca Foulger gene: CAPRIN1 was added
gene: CAPRIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAPRIN1 were set to 23849776
Phenotypes for gene: CAPRIN1 were set to AUTISM OR INTELLECTUAL DISABILITY
DDG2P v0.1 CAPN10 Rebecca Foulger gene: CAPN10 was added
gene: CAPN10 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CAPN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN10 were set to 21937992
Phenotypes for gene: CAPN10 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CAMTA1 Rebecca Foulger gene: CAMTA1 was added
gene: CAMTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMTA1 were set to 22693284
Phenotypes for gene: CAMTA1 were set to CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756
DDG2P v0.1 CAMK2B Rebecca Foulger gene: CAMK2B was added
gene: CAMK2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2B were set to 29100089; 29560374
Phenotypes for gene: CAMK2B were set to INTELLECTUAL DISABILITY
DDG2P v0.1 CAMK2A Rebecca Foulger gene: CAMK2A was added
gene: CAMK2A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CAMK2A were set to 29100089; 29560374
Phenotypes for gene: CAMK2A were set to INTELLECTUAL DISABILITY
DDG2P v0.1 CAD Rebecca Foulger gene: CAD was added
gene: CAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CAD was set to
Phenotypes for gene: CAD were set to Uridine-responsive epileptic encephalopathy
DDG2P v0.1 CACNB4 Rebecca Foulger Added phenotypes EPISODIC ATAXIA TYPE 5 318989 for gene: CACNB4
DDG2P v0.1 CACNB4 Rebecca Foulger Added phenotypes CACNB4-RELATED JUVENILE MYOCLONIC EPILEPSY 311100 for gene: CACNB4
DDG2P v0.1 CACNB4 Rebecca Foulger Added phenotypes CACNB4-RELATED EPISODIC ATAXIA TYPE 2 279386 for gene: CACNB4
DDG2P v0.1 CACNB4 Rebecca Foulger gene: CACNB4 was added
gene: CACNB4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNB4 were set to JUVENILE MYOCLONIC EPILEPSY 611136
DDG2P v0.1 CACNA1H Rebecca Foulger gene: CACNA1H was added
gene: CACNA1H was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CACNA1H were set to EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942
Mode of pathogenicity for gene: CACNA1H was set to Other - please provide details in the comments
DDG2P v0.1 CACNA1G Rebecca Foulger gene: CACNA1G was added
gene: CACNA1G was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA1G were set to 21937992
Phenotypes for gene: CACNA1G were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 CACNA1D Rebecca Foulger Added phenotypes PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474 for gene: CACNA1D
Publications for gene CACNA1D were changed from 21131953 to 23913001
DDG2P v0.1 CACNA1D Rebecca Foulger gene: CACNA1D was added
gene: CACNA1D was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1D was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CACNA1D were set to 21131953
Phenotypes for gene: CACNA1D were set to SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896
DDG2P v0.1 CACNA1C Rebecca Foulger gene: CACNA1C was added
gene: CACNA1C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1C were set to 15454078
Phenotypes for gene: CACNA1C were set to TIMOTHY SYNDROME 601005
Mode of pathogenicity for gene: CACNA1C was set to Other - please provide details in the comments
DDG2P v0.1 CACNA1A Rebecca Foulger gene: CACNA1A was added
gene: CACNA1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNA1A were set to 27476654; 28927557; 28742085; 23934111; 29366381
Phenotypes for gene: CACNA1A were set to EPILEPTIC ENCEPHALOPATHY
Mode of pathogenicity for gene: CACNA1A was set to Other - please provide details in the comments
DDG2P v0.1 CA8 Rebecca Foulger gene: CA8 was added
gene: CA8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA8 were set to 19461874; 21937992
Phenotypes for gene: CA8 were set to CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227
DDG2P v0.1 CA5A Rebecca Foulger gene: CA5A was added
gene: CA5A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA5A were set to 24530203
Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751
DDG2P v0.1 CA2 Rebecca Foulger gene: CA2 was added
gene: CA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CA2 were set to 12566520; 8127074; 5041390; 1301935
Phenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730
DDG2P v0.1 C8orf37 Rebecca Foulger gene: C8orf37 was added
gene: C8orf37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C8orf37 were set to 22177090
Phenotypes for gene: C8orf37 were set to CONE-ROD DYSTROPHY 16 614500
DDG2P v0.1 C5orf42 Rebecca Foulger gene: C5orf42 was added
gene: C5orf42 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to JOUBERT SYNDROME 614615
DDG2P v0.1 C4orf26 Rebecca Foulger gene: C4orf26 was added
gene: C4orf26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C4orf26 were set to 22901946
Phenotypes for gene: C4orf26 were set to AMYELOGENESIS 614832
DDG2P v0.1 C2orf71 Rebecca Foulger gene: C2orf71 was added
gene: C2orf71 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C2orf71 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2orf71 were set to RETINITIS PIGMENTOSA 54 613428
DDG2P v0.1 C2CD3 Rebecca Foulger gene: C2CD3 was added
gene: C2CD3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2CD3 were set to 24997988
Phenotypes for gene: C2CD3 were set to OROFACIODIGITAL SYNDROME XIV 615948
DDG2P v0.1 C21orf59 Rebecca Foulger gene: C21orf59 was added
gene: C21orf59 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C21orf59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf59 were set to PRIMARY CILIARY DYSKINESIA
DDG2P v0.1 C21orf2 Rebecca Foulger gene: C21orf2 was added
gene: C21orf2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C21orf2 were set to 26974433
Phenotypes for gene: C21orf2 were set to Axial Spondylometaphyseal Dysplasia
DDG2P v0.1 C1QBP Rebecca Foulger gene: C1QBP was added
gene: C1QBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1QBP were set to 28942965
Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Mode of pathogenicity for gene: C1QBP was set to Other - please provide details in the comments
DDG2P v0.1 C12orf65 Rebecca Foulger gene: C12orf65 was added
gene: C12orf65 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559
DDG2P v0.1 C12orf57 Rebecca Foulger gene: C12orf57 was added
gene: C12orf57 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf57 were set to 23453666
Phenotypes for gene: C12orf57 were set to COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340; TEMTAMY SYNDROME
Mode of pathogenicity for gene: C12orf57 was set to Other - please provide details in the comments
DDG2P v0.1 BUB1B Rebecca Foulger gene: BUB1B was added
gene: BUB1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUB1B were set to 9916837; 21190457; 16411201; 11169558; 15475955
Phenotypes for gene: BUB1B were set to MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300
DDG2P v0.1 BTD Rebecca Foulger gene: BTD was added
gene: BTD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 9099842; 10801053; 9705240; 9375914; 7550325; 8894703; 9158148
Phenotypes for gene: BTD were set to BIOTINIDASE DEFICIENCY 253260
DDG2P v0.1 BSND Rebecca Foulger gene: BSND was added
gene: BSND was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BSND were set to 19646679; 12574213; 11687798
Phenotypes for gene: BSND were set to BARTTER SYNDROME TYPE 4A 602522
DDG2P v0.1 BRWD3 Rebecca Foulger gene: BRWD3 was added
gene: BRWD3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BRWD3 were set to 17668385
Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93 300659
DDG2P v0.1 BRPF1 Rebecca Foulger gene: BRPF1 was added
gene: BRPF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRPF1 were set to 27939639; 27939640
Phenotypes for gene: BRPF1 were set to BRPF1 associated syndromic intellectual disability with ptosis
DDG2P v0.1 BRIP1 Rebecca Foulger gene: BRIP1 was added
gene: BRIP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRIP1 were set to 16116424
Phenotypes for gene: BRIP1 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054
DDG2P v0.1 BRCA2 Rebecca Foulger gene: BRCA2 was added
gene: BRCA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724
DDG2P v0.1 BRCA1 Rebecca Foulger gene: BRCA1 was added
gene: BRCA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRCA1 were set to 12624153
Phenotypes for gene: BRCA1 were set to INTELLECTUAL DISABILITY
DDG2P v0.1 BRAT1 Rebecca Foulger gene: BRAT1 was added
gene: BRAT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRAT1 were set to 22279524
Phenotypes for gene: BRAT1 were set to LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 614498
DDG2P v0.1 BRAF Rebecca Foulger Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 for gene: BRAF
Publications for gene BRAF were changed from 19206169 to 18042262; 16474404; 16372351
DDG2P v0.1 BRAF Rebecca Foulger Added phenotypes LEOPARD SYNDROME TYPE 3 613707 for gene: BRAF
DDG2P v0.1 BRAF Rebecca Foulger gene: BRAF was added
gene: BRAF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAF were set to 19206169
Phenotypes for gene: BRAF were set to NOONAN SYNDROME TYPE 7 613706
Mode of pathogenicity for gene: BRAF was set to Other - please provide details in the comments
DDG2P v0.1 BPTF Rebecca Foulger gene: BPTF was added
gene: BPTF was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BPTF were set to 28942966
Phenotypes for gene: BPTF were set to Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
DDG2P v0.1 BPIFB6 Rebecca Foulger gene: BPIFB6 was added
gene: BPIFB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: BPIFB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: BPIFB6 were set to BACTERICIDAL PERMEABILITY-INCREASING PROTEIN-LIKE 3 614110
Mode of pathogenicity for gene: BPIFB6 was set to Other - please provide details in the comments
DDG2P v0.1 BOLA3 Rebecca Foulger gene: BOLA3 was added
gene: BOLA3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BOLA3 were set to 11156534
Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299
DDG2P v0.1 BMPR1B Rebecca Foulger gene: BMPR1B was added
gene: BMPR1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMPR1B were set to 14523231; 18203755
Phenotypes for gene: BMPR1B were set to BRACHYDACTYLY TYPE A2 112600
DDG2P v0.1 BMPER Rebecca Foulger gene: BMPER was added
gene: BMPER was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMPER were set to 20869035
Phenotypes for gene: BMPER were set to DIAPHANOSPONDYLODYSOSTOSIS 608022
DDG2P v0.1 BMP4 Rebecca Foulger Added phenotypes MICROPHTHALMIA, SYNDROMIC 6 607932 for gene: BMP4
Publications for gene BMP4 were changed from 19249007 to 21340693; 18252212
DDG2P v0.1 BMP4 Rebecca Foulger gene: BMP4 was added
gene: BMP4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP4 were set to 19249007
Phenotypes for gene: BMP4 were set to OROFACIAL CLEFT 11 600625
DDG2P v0.1 BMP2 Rebecca Foulger gene: BMP2 was added
gene: BMP2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BMP2 were set to 100000
Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
DDG2P v0.1 BLOC1S6 Rebecca Foulger gene: BLOC1S6 was added
gene: BLOC1S6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BLOC1S6 were set to 21665000
Phenotypes for gene: BLOC1S6 were set to HERMANSKY-PUDLAK SYNDROME 9 614171
DDG2P v0.1 BLM Rebecca Foulger gene: BLM was added
gene: BLM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to BLOOM SYNDROME 210900
DDG2P v0.1 BIN1 Rebecca Foulger gene: BIN1 was added
gene: BIN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BIN1 were set to 20142620; 17676042
Phenotypes for gene: BIN1 were set to CENTRONUCLEAR MYOPATHY 2 255200
DDG2P v0.1 BICD2 Rebecca Foulger gene: BICD2 was added
gene: BICD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BICD2 were set to 23664120
Phenotypes for gene: BICD2 were set to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Mode of pathogenicity for gene: BICD2 was set to Other - please provide details in the comments
DDG2P v0.1 BHLHA9 Rebecca Foulger Added phenotypes SPLIT HAND AND FOOT MALFORMATION 220600 for gene: BHLHA9
Publications for gene BHLHA9 were changed from 25466284 to 23790188; 22147889
DDG2P v0.1 BHLHA9 Rebecca Foulger gene: BHLHA9 was added
gene: BHLHA9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BHLHA9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHA9 were set to 25466284
Phenotypes for gene: BHLHA9 were set to MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432
Mode of pathogenicity for gene: BHLHA9 was set to Other - please provide details in the comments
DDG2P v0.1 BGN Rebecca Foulger Added phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection for gene: BGN
Publications for gene BGN were changed from 27236923 to 27632686
DDG2P v0.1 BGN Rebecca Foulger gene: BGN was added
gene: BGN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BGN were set to 27236923
Phenotypes for gene: BGN were set to X-Linked Spondyloepimetaphyseal Dysplasia
DDG2P v0.1 BFSP2 Rebecca Foulger gene: BFSP2 was added
gene: BFSP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BFSP2 were set to 10634598; 10729115
Phenotypes for gene: BFSP2 were set to CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597
Mode of pathogenicity for gene: BFSP2 was set to Other - please provide details in the comments
DDG2P v0.1 BCS1L Rebecca Foulger gene: BCS1L was added
gene: BCS1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCS1L were set to 12215968
Phenotypes for gene: BCS1L were set to GRACILE SYNDROME 603358
DDG2P v0.1 BCOR Rebecca Foulger gene: BCOR was added
gene: BCOR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCOR 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: BCOR were set to 15957158; 19367324; 15004558; 15770227
Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2 300166
DDG2P v0.1 BCL11A Rebecca Foulger gene: BCL11A was added
gene: BCL11A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCL11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BCL11A were set to 27453576; 25533962
Phenotypes for gene: BCL11A were set to INTELLECTUAL DISABILITY
DDG2P v0.1 BCKDHB Rebecca Foulger gene: BCKDHB was added
gene: BCKDHB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to MAPLE SYRUP URINE DISEASE 248600
DDG2P v0.1 BCKDHA Rebecca Foulger gene: BCKDHA was added
gene: BCKDHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDHA were set to 18378174; 7883996; 8430702; 2010537; 11509994; 2022752; 14508502; 1990841; 14742428; 1847055; 9621512; 2703538; 9582350
Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE 248600
DDG2P v0.1 BCAP31 Rebecca Foulger gene: BCAP31 was added
gene: BCAP31 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: BCAP31 were set to 24011989
Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
DDG2P v0.1 BBS9 Rebecca Foulger gene: BBS9 was added
gene: BBS9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to BARDET-BIEDL SYNDROME TYPE 9 209900
DDG2P v0.1 BBS7 Rebecca Foulger gene: BBS7 was added
gene: BBS7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to BARDET-BIEDL SYNDROME TYPE 7 209900
DDG2P v0.1 BBS5 Rebecca Foulger gene: BBS5 was added
gene: BBS5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to BARDET-BIEDL SYNDROME TYPE 5 209900
DDG2P v0.1 BBS4 Rebecca Foulger gene: BBS4 was added
gene: BBS4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to BARDET-BIEDL SYNDROME TYPE 4 209900
DDG2P v0.1 BBS2 Rebecca Foulger gene: BBS2 was added
gene: BBS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to BARDET-BIEDL SYNDROME TYPE 2 209900
DDG2P v0.1 BBS12 Rebecca Foulger gene: BBS12 was added
gene: BBS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to BARDET-BIEDL SYNDROME TYPE 12 209900
DDG2P v0.1 BBS10 Rebecca Foulger gene: BBS10 was added
gene: BBS10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to BARDET-BIEDL SYNDROME TYPE 10 209900
DDG2P v0.1 BBS1 Rebecca Foulger gene: BBS1 was added
gene: BBS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to BARDET-BIEDL SYNDROME TYPE 1 209900
DDG2P v0.1 BANF1 Rebecca Foulger gene: BANF1 was added
gene: BANF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BANF1 were set to 21549337
Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME 614008
Mode of pathogenicity for gene: BANF1 was set to Other - please provide details in the comments
DDG2P v0.1 B9D1 Rebecca Foulger gene: B9D1 was added
gene: B9D1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21493627
Phenotypes for gene: B9D1 were set to MECKEL SYNDROME 9 614209
DDG2P v0.1 B4GALT7 Rebecca Foulger gene: B4GALT7 was added
gene: B4GALT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALT7 were set to 3631078; 15211654
Phenotypes for gene: B4GALT7 were set to EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070
DDG2P v0.1 B3GALT6 Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640 for gene: B3GALT6
Publications for gene B3GALT6 were changed from to 23664117
DDG2P v0.1 B3GALT6 Rebecca Foulger gene: B3GALT6 was added
gene: B3GALT6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to EHLERS-DANLOS SYNDROME 130070
DDG2P v0.1 B3GALNT2 Rebecca Foulger gene: B3GALNT2 was added
gene: B3GALNT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B3GALNT2 were set to 23453667
Phenotypes for gene: B3GALNT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181
DDG2P v0.1 AXIN1 Rebecca Foulger gene: AXIN1 was added
gene: AXIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: AXIN1 was set to
Phenotypes for gene: AXIN1 were set to CAUDAL DUPLICATION ANOMALY 607864
Mode of pathogenicity for gene: AXIN1 was set to Other - please provide details in the comments
DDG2P v0.1 AUTS2 Rebecca Foulger gene: AUTS2 was added
gene: AUTS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AUTS2 were set to 23332918
Phenotypes for gene: AUTS2 were set to SYNDROMIC INTELLECTUAL DISABILITY 612100
DDG2P v0.1 AUH Rebecca Foulger gene: AUH was added
gene: AUH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AUH were set to 20855850; 15033206; 12434311; 10070612; 6181239
Phenotypes for gene: AUH were set to 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950
DDG2P v0.1 ATRX Rebecca Foulger Added phenotypes ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 for gene: ATRX
Publications for gene ATRX were changed from 6682021; 6711605; 16222662; 10632111; 9043863; 10751095 to 12116232; 10995512; 8644709; 15565397; 9598720; 9244431; 7697714
DDG2P v0.1 ATRX Rebecca Foulger gene: ATRX was added
gene: ATRX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATRX were set to 6682021; 6711605; 16222662; 10632111; 9043863; 10751095
Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580
DDG2P v0.1 ATR Rebecca Foulger gene: ATR was added
gene: ATR was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to SECKEL SYNDROME TYPE 1 210600
DDG2P v0.1 ATP8B1 Rebecca Foulger gene: ATP8B1 was added
gene: ATP8B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8B1 were set to 5762004; 11093741; 15317749; 9500542
Phenotypes for gene: ATP8B1 were set to ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600
DDG2P v0.1 ATP8A2 Rebecca Foulger gene: ATP8A2 was added
gene: ATP8A2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8A2 were set to 22892528
Phenotypes for gene: ATP8A2 were set to CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268
Mode of pathogenicity for gene: ATP8A2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP7A Rebecca Foulger Added phenotypes MENKES DISEASE 309400 for gene: ATP7A
Publications for gene ATP7A were changed from 20170900; 19153371 to 7842019; 19194885; 12221109; 14635105; 10739752; 9894833; 8812725; 15372525
DDG2P v0.1 ATP7A Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489 for gene: ATP7A
Publications for gene ATP7A were changed from 17108763; 8149649; 11431706; 10739752; 9246006 to 20170900; 19153371
DDG2P v0.1 ATP7A Rebecca Foulger gene: ATP7A was added
gene: ATP7A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 17108763; 8149649; 11431706; 10739752; 9246006
Phenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME 304150
DDG2P v0.1 ATP6V1B2 Rebecca Foulger gene: ATP6V1B2 was added
gene: ATP6V1B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP6V1B2 were set to 25915598
Phenotypes for gene: ATP6V1B2 were set to ZIMMERMANN-LABAND SYNDROME
Mode of pathogenicity for gene: ATP6V1B2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP6V1B1 Rebecca Foulger gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1B1 were set to 12566520; 18798332; 9916796
Phenotypes for gene: ATP6V1B1 were set to DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300
DDG2P v0.1 ATP6AP2 Rebecca Foulger gene: ATP6AP2 was added
gene: ATP6AP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP2 were set to MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423
Mode of pathogenicity for gene: ATP6AP2 was set to Other - please provide details in the comments
DDG2P v0.1 ATP1A3 Rebecca Foulger Added phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290 for gene: ATP1A3
Publications for gene ATP1A3 were changed from to 22842232
DDG2P v0.1 ATP1A3 Rebecca Foulger gene: ATP1A3 was added
gene: ATP1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATP1A3 were set to RAPID-ONSET DYSTONIA-PARKINSONISM 128235
Mode of pathogenicity for gene: ATP1A3 was set to Other - please provide details in the comments
DDG2P v0.1 ATP13A2 Rebecca Foulger gene: ATP13A2 was added
gene: ATP13A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to PARKINSON DISEASE 9 606693
DDG2P v0.1 ATOH7 Rebecca Foulger gene: ATOH7 was added
gene: ATOH7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATOH7 were set to RETINAL NON-ATTACHMENT CONGENITAL NON-SYNDROMIC 221900
Mode of pathogenicity for gene: ATOH7 was set to Other - please provide details in the comments
DDG2P v0.1 ATM Rebecca Foulger gene: ATM was added
gene: ATM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATM were set to 9443866; 11826028; 8968760; 9450874; 9600235; 8755918; 22345219; 7792600; 9887333; 8808599; 9781027; 2491181; 11889466; 9521587
Phenotypes for gene: ATM were set to ATAXIA-TELANGIECTASIA 208900
DDG2P v0.1 ATIC Rebecca Foulger gene: ATIC was added
gene: ATIC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATIC were set to 15114530
Phenotypes for gene: ATIC were set to AICA-RIBOSURIA 608688
DDG2P v0.1 ATAD3A Rebecca Foulger Added phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy for gene: ATAD3A
DDG2P v0.1 ATAD3A Rebecca Foulger gene: ATAD3A was added
gene: ATAD3A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ATAD3A were set to 27640307
Phenotypes for gene: ATAD3A were set to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy
DDG2P v0.1 ASXL3 Rebecca Foulger gene: ASXL3 was added
gene: ASXL3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ASXL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASXL3 were set to 23383720
Phenotypes for gene: ASXL3 were set to BAINBRIDGE-ROPERS SYNDROME 615485
DDG2P v0.1 ASXL2 Rebecca Foulger gene: ASXL2 was added
gene: ASXL2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ASXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASXL2 were set to 28061364
Phenotypes for gene: ASXL2 were set to Developmental delay, macrocephaly, and dysmorphic features
DDG2P v0.1 ASXL1 Rebecca Foulger gene: ASXL1 was added
gene: ASXL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASXL1 were set to 21706002; 22419483
Phenotypes for gene: ASXL1 were set to BOHRING-OPITZ SYNDROME 605039
DDG2P v0.1 ASS1 Rebecca Foulger gene: ASS1 was added
gene: ASS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to CITRULLINEMIA TYPE I 615700
DDG2P v0.1 ASPM Rebecca Foulger gene: ASPM was added
gene: ASPM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPM were set to 12355089
Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
DDG2P v0.1 ASPH Rebecca Foulger gene: ASPH was added
gene: ASPH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPH were set to 24768550
Phenotypes for gene: ASPH were set to FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
DDG2P v0.1 ASPA Rebecca Foulger gene: ASPA was added
gene: ASPA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to 8252036; 8023850; 8088831; 7599639; 16437572; 7668285; 10909858; 12638939; 10564886; 8659549
Phenotypes for gene: ASPA were set to CANAVAN DISEASE 271900
DDG2P v0.1 ASL Rebecca Foulger gene: ASL was added
gene: ASL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12408190; 12384776
Phenotypes for gene: ASL were set to ARGININOSUCCINATE LYASE DEFICIENCY 207900
DDG2P v0.1 ASH1L Rebecca Foulger gene: ASH1L was added
gene: ASH1L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ASH1L were set to 25961944; 28394464; 29753921; 29276005
Phenotypes for gene: ASH1L were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: ASH1L was set to Other - please provide details in the comments
DDG2P v0.1 ASCL1 Rebecca Foulger gene: ASCL1 was added
gene: ASCL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCL1 were set to 21937992
Phenotypes for gene: ASCL1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ASCL1 was set to Other - please provide details in the comments
DDG2P v0.1 ASCC3 Rebecca Foulger gene: ASCC3 was added
gene: ASCC3 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 21937992
Phenotypes for gene: ASCC3 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ASCC3 was set to Other - please provide details in the comments
DDG2P v0.1 ASCC1 Rebecca Foulger gene: ASCC1 was added
gene: ASCC1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC1 were set to 26924529
Phenotypes for gene: ASCC1 were set to Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
DDG2P v0.1 ASAH1 Rebecca Foulger Added phenotypes SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 for gene: ASAH1
Publications for gene ASAH1 were changed from 10610716; 16951918; 11241842; 8955159 to 22703880
DDG2P v0.1 ASAH1 Rebecca Foulger gene: ASAH1 was added
gene: ASAH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASAH1 were set to 10610716; 16951918; 11241842; 8955159
Phenotypes for gene: ASAH1 were set to FARBER LIPOGRANULOMATOSIS 228000
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes LISSENCEPHALY X-LINKED TYPE 2 300215 for gene: ARX
Publications for gene ARX were changed from 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397 to 14722918; 11891829; 12379852
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350 for gene: ARX
Publications for gene ARX were changed from 1605226 to 10353782; 11889467; 19738637; 17668384; 18462864; 19606478; 12177367; 21108397
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes PARTINGTON SYNDROME 309510 for gene: ARX
DDG2P v0.1 ARX Rebecca Foulger Added phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004 for gene: ARX
Publications for gene ARX were changed from 21204226; 11971879 to 1605226
DDG2P v0.1 ARX Rebecca Foulger gene: ARX was added
gene: ARX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARX were set to 21204226; 11971879
Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED 300419
DDG2P v0.1 ARSE Rebecca Foulger gene: ARSE was added
gene: ARSE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARSE were set to 9409863; 7720070; 12567415
Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950
DDG2P v0.1 ARSB Rebecca Foulger gene: ARSB was added
gene: ARSB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSB were set to 1718978; 1301949; 17643332; 8723688; 1550123; 8651289
Phenotypes for gene: ARSB were set to MUCOPOLYSACCHARIDOSIS TYPE 6 253200
DDG2P v0.1 ARSA Rebecca Foulger gene: ARSA was added
gene: ARSA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSA were set to 8101083; 7866401; 7909527; 1670590; 1673291; 7906588; 8104633; 11941485; 11456299; 1678251; 12788103; 1676699; 1353340; 11061266; 7902317; 9600244; 8101038; 7858169; 7815433; 1684088; 7981715; 7833949; 2574462
Phenotypes for gene: ARSA were set to ARYLSULFATASE A DEFICIENCY 250100
DDG2P v0.1 ARMC9 Rebecca Foulger gene: ARMC9 was added
gene: ARMC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30
DDG2P v0.1 ARMC4 Rebecca Foulger gene: ARMC4 was added
gene: ARMC4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC4 were set to 23849778
Phenotypes for gene: ARMC4 were set to CILIARY DYSKINESIA, PRIMARY, 23 615451
DDG2P v0.1 ARL6 Rebecca Foulger Added phenotypes RETINITIS PIGMENTOSA TYPE 55 613575 for gene: ARL6
Publications for gene ARL6 were changed from 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660 to 19956407
DDG2P v0.1 ARL6 Rebecca Foulger gene: ARL6 was added
gene: ARL6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6 were set to 20618352; 11381270; 16582908; 18327255; 11567139; 20805367; 21937992; 17160889; 7987310; 16380913; 12837689; 10973238; 16606853; 18203199; 7711739; 8298649; 14520415; 15314642; 15137946; 22353939; 10973251; 9714014; 12118255; 12524598; 20671153; 12567324; 12016587; 16308660
Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 209900
DDG2P v0.1 ARL14EP Rebecca Foulger gene: ARL14EP was added
gene: ARL14EP was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARL14EP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL14EP were set to 21937992
Phenotypes for gene: ARL14EP were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ARL14EP was set to Other - please provide details in the comments
DDG2P v0.1 ARID2 Rebecca Foulger gene: ARID2 was added
gene: ARID2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARID2 were set to 28124119
Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder
DDG2P v0.1 ARID1B Rebecca Foulger Added phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 614562 for gene: ARID1B
Publications for gene ARID1B were changed from to 22426309; 22426308; 22405089
DDG2P v0.1 ARID1B Rebecca Foulger gene: ARID1B was added
gene: ARID1B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME
DDG2P v0.1 ARID1A Rebecca Foulger gene: ARID1A was added
gene: ARID1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME 135900
DDG2P v0.1 ARHGEF9 Rebecca Foulger gene: ARHGEF9 was added
gene: ARHGEF9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARHGEF9 were set to 21633362
Phenotypes for gene: ARHGEF9 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607
DDG2P v0.1 ARHGEF6 Rebecca Foulger gene: ARHGEF6 was added
gene: ARHGEF6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGEF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF6 were set to MENTAL RETARDATION X-LINKED TYPE 46 300436
DDG2P v0.1 ARHGAP31 Rebecca Foulger gene: ARHGAP31 was added
gene: ARHGAP31 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARHGAP31 were set to 16451141; 474617
Phenotypes for gene: ARHGAP31 were set to ADAMS-OLIVER SYNDROME 1 100300
DDG2P v0.1 ARG1 Rebecca Foulger gene: ARG1 was added
gene: ARG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 10502833; 2365823; 1463019; 7649538; 1598908
Phenotypes for gene: ARG1 were set to ARGININEMIA 207800
DDG2P v0.1 ARFGEF2 Rebecca Foulger gene: ARFGEF2 was added
gene: ARFGEF2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARFGEF2 were set to 14647276
Phenotypes for gene: ARFGEF2 were set to PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097
DDG2P v0.1 ARCN1 Rebecca Foulger gene: ARCN1 was added
gene: ARCN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ARCN1 were set to 27476655
Phenotypes for gene: ARCN1 were set to Microcephalic dwarfism
DDG2P v0.1 AR Rebecca Foulger Added phenotypes ANDROGEN INSENSITIVITY SYNDROME 300068 for gene: AR
DDG2P v0.1 AR Rebecca Foulger gene: AR was added
gene: AR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY 313200
DDG2P v0.1 APTX Rebecca Foulger gene: APTX was added
gene: APTX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APTX were set to 12196655; 11586300; 11586299; 15365154; 15852392
Phenotypes for gene: APTX were set to ATAXIA WITH OCULOMOTOR APRAXIA 1 208920
DDG2P v0.1 APOPT1 Rebecca Foulger gene: APOPT1 was added
gene: APOPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110
DDG2P v0.1 AP4S1 Rebecca Foulger gene: AP4S1 was added
gene: AP4S1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4S1 were set to 21620353
Phenotypes for gene: AP4S1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067
DDG2P v0.1 AP4M1 Rebecca Foulger gene: AP4M1 was added
gene: AP4M1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to 19559397
Phenotypes for gene: AP4M1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 612936
DDG2P v0.1 AP4E1 Rebecca Foulger gene: AP4E1 was added
gene: AP4E1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to 20972249
Phenotypes for gene: AP4E1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744
DDG2P v0.1 AP4B1 Rebecca Foulger gene: AP4B1 was added
gene: AP4B1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 21620353; 22290197
Phenotypes for gene: AP4B1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066
DDG2P v0.1 AP3B2 Rebecca Foulger gene: AP3B2 was added
gene: AP3B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP3B2 were set to 27889060
Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy
DDG2P v0.1 AP1S2 Rebecca Foulger gene: AP1S2 was added
gene: AP1S2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AP1S2 were set to 17617514; 5054319; 10398241; 17186471; 12599187
Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59 300630
DDG2P v0.1 ANTXR1 Rebecca Foulger gene: ANTXR1 was added
gene: ANTXR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711
Phenotypes for gene: ANTXR1 were set to GAPO SYNDROME
DDG2P v0.1 ANO5 Rebecca Foulger Added phenotypes GNATHODIAPHYSEAL DYSPLASIA 166260 for gene: ANO5
DDG2P v0.1 ANO5 Rebecca Foulger Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307 for gene: ANO5
DDG2P v0.1 ANO5 Rebecca Foulger gene: ANO5 was added
gene: ANO5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ANO5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319
DDG2P v0.1 ANKRD26 Rebecca Foulger gene: ANKRD26 was added
gene: ANKRD26 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKRD26 were set to 21211618; 10521306
Phenotypes for gene: ANKRD26 were set to THROMBOCYTOPENIA 2 188000
Mode of pathogenicity for gene: ANKRD26 was set to Other - please provide details in the comments
DDG2P v0.1 ANKRD11 Rebecca Foulger gene: ANKRD11 was added
gene: ANKRD11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKRD11 were set to 15523620; 15378538; 21782149
Phenotypes for gene: ANKRD11 were set to KBG SYNDROME 148050
DDG2P v0.1 ANKH Rebecca Foulger Added phenotypes CHONDROCALCINOSIS 2 118600 for gene: ANKH
Publications for gene ANKH were changed from 11326272; 14322785; 20358596; 2712793 to 13130483; 8528213; 12297987; 8244341; 12297989; 9915952
DDG2P v0.1 ANKH Rebecca Foulger gene: ANKH was added
gene: ANKH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ANKH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANKH were set to 11326272; 14322785; 20358596; 2712793
Phenotypes for gene: ANKH were set to CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000
DDG2P v0.1 AMT Rebecca Foulger gene: AMT was added
gene: AMT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to GLYCINE ENCEPHALOPATHY 605899
DDG2P v0.1 AMPD2 Rebecca Foulger gene: AMPD2 was added
gene: AMPD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to 23911318
Phenotypes for gene: AMPD2 were set to PONTOCEREBELLAR HYPOPLASIA
DDG2P v0.1 AMER1 Rebecca Foulger gene: AMER1 was added
gene: AMER1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AMER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373
DDG2P v0.1 ALX4 Rebecca Foulger Added phenotypes PARIETAL FORAMINA 2 221704 for gene: ALX4
DDG2P v0.1 ALX4 Rebecca Foulger gene: ALX4 was added
gene: ALX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALX4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALX4 were set to FRONTONASAL DYSPLASIA 2 605420
DDG2P v0.1 ALX3 Rebecca Foulger gene: ALX3 was added
gene: ALX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX3 were set to 19409524
Phenotypes for gene: ALX3 were set to FRONTONASAL DYSPLASIA TYPE 1 136760
DDG2P v0.1 ALX1 Rebecca Foulger gene: ALX1 was added
gene: ALX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALX1 were set to 20451171; 27324866
Phenotypes for gene: ALX1 were set to FRONTONASAL DYSPLASIA TYPE 3 136760
DDG2P v0.1 ALS2 Rebecca Foulger gene: ALS2 was added
gene: ALS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALS2 were set to 11586297
Phenotypes for gene: ALS2 were set to ALS2-RELATED DISORDERS 240656
DDG2P v0.1 ALPL Rebecca Foulger gene: ALPL was added
gene: ALPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 3174660
Phenotypes for gene: ALPL were set to HYPOPHOSPHATASIA 241500
Mode of pathogenicity for gene: ALPL was set to Other - please provide details in the comments
DDG2P v0.1 ALMS1 Rebecca Foulger gene: ALMS1 was added
gene: ALMS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALMS1 were set to 11941370; 11941369; 21877133; 9063741; 17594715; 17850632
Phenotypes for gene: ALMS1 were set to ALSTROM SYNDROME 203800
DDG2P v0.1 ALG9 Rebecca Foulger gene: ALG9 was added
gene: ALG9 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to ALG9-CDG 300153
DDG2P v0.1 ALG8 Rebecca Foulger gene: ALG8 was added
gene: ALG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to ALG8-CDG 237145
DDG2P v0.1 ALG6 Rebecca Foulger gene: ALG6 was added
gene: ALG6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to ALG6-CDG 237124
DDG2P v0.1 ALG3 Rebecca Foulger gene: ALG3 was added
gene: ALG3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to ALG3-CDG 237128
DDG2P v0.1 ALG2 Rebecca Foulger gene: ALG2 was added
gene: ALG2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to ALG2-CDG 237149
DDG2P v0.1 ALG13 Rebecca Foulger Added phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS 300884 for gene: ALG13
Publications for gene ALG13 were changed from 23934111 to 22492991
DDG2P v0.1 ALG13 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHY for gene: ALG13
DDG2P v0.1 ALG13 Rebecca Foulger Added phenotypes EPILEPTIC ENCEPHALOPATHIES. for gene: ALG13
DDG2P v0.1 ALG13 Rebecca Foulger gene: ALG13 was added
gene: ALG13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ALG13 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: ALG13 were set to 23934111
Phenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES.
Mode of pathogenicity for gene: ALG13 was set to Other - please provide details in the comments
DDG2P v0.1 ALG12 Rebecca Foulger gene: ALG12 was added
gene: ALG12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG12 were set to 12217961; 11983712; 12093361
Phenotypes for gene: ALG12 were set to CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143
DDG2P v0.1 ALG11 Rebecca Foulger gene: ALG11 was added
gene: ALG11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to ALG11-CDG 319490
DDG2P v0.1 ALG1 Rebecca Foulger gene: ALG1 was added
gene: ALG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to ALG1-CDG 300141
DDG2P v0.1 ALDOB Rebecca Foulger gene: ALDOB was added
gene: ALDOB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOB were set to 3383242
Phenotypes for gene: ALDOB were set to HEREDITARY FRUCTOSE INTOLERANCE 229600
DDG2P v0.1 ALDOA Rebecca Foulger gene: ALDOA was added
gene: ALDOA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDOA were set to 8598869; 2825199
Phenotypes for gene: ALDOA were set to GLYCOGEN STORAGE DISEASE XII 611881
Mode of pathogenicity for gene: ALDOA was set to Other - please provide details in the comments
DDG2P v0.1 ALDH7A1 Rebecca Foulger gene: ALDH7A1 was added
gene: ALDH7A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH7A1 were set to 16491085; 17721876; 17068770
Phenotypes for gene: ALDH7A1 were set to PYRIDOXINE-DEPENDENT EPILEPSY 266100
DDG2P v0.1 ALDH5A1 Rebecca Foulger gene: ALDH5A1 was added
gene: ALDH5A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH5A1 were set to 14635103; 9683595; 16542398
Phenotypes for gene: ALDH5A1 were set to SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980
DDG2P v0.1 ALDH4A1 Rebecca Foulger gene: ALDH4A1 was added
gene: ALDH4A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 9700195
Phenotypes for gene: ALDH4A1 were set to HYPERPROLINEMIA TYPE 2 239510
DDG2P v0.1 ALDH3A2 Rebecca Foulger gene: ALDH3A2 was added
gene: ALDH3A2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 9250352; 9254849; 8528251; 10792573; 10577908
Phenotypes for gene: ALDH3A2 were set to SJOEGREN-LARSSON SYNDROME 270200
DDG2P v0.1 ALDH1A3 Rebecca Foulger gene: ALDH1A3 was added
gene: ALDH1A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A3 were set to 23312594
Phenotypes for gene: ALDH1A3 were set to ANOPHTHALMIA/MICROPHTHALMIA
DDG2P v0.1 ALDH18A1 Rebecca Foulger Added phenotypes CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603 for gene: ALDH18A1
Publications for gene ALDH18A1 were changed from to 26320891
DDG2P v0.1 ALDH18A1 Rebecca Foulger Added phenotypes MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652 for gene: ALDH18A1
DDG2P v0.1 ALDH18A1 Rebecca Foulger gene: ALDH18A1 was added
gene: ALDH18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162
DDG2P v0.1 ALAD Rebecca Foulger gene: ALAD was added
gene: ALAD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALAD were set to 2063868
Phenotypes for gene: ALAD were set to ACUTE HEPATIC PORPHYRIA 612740
Mode of pathogenicity for gene: ALAD was set to Other - please provide details in the comments
DDG2P v0.1 AKT3 Rebecca Foulger gene: AKT3 was added
gene: AKT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AKT3 were set to 22500628; 22729224
Phenotypes for gene: AKT3 were set to HEMIMEGALENCEPHALY AKT3 603387
Mode of pathogenicity for gene: AKT3 was set to Other - please provide details in the comments
DDG2P v0.1 AKT1 Rebecca Foulger gene: AKT1 was added
gene: AKT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT1 were set to PROTEUS SYNDROME 176920
Mode of pathogenicity for gene: AKT1 was set to Other - please provide details in the comments
DDG2P v0.1 AKR1D1 Rebecca Foulger gene: AKR1D1 was added
gene: AKR1D1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1D1 were set to 12970144
Phenotypes for gene: AKR1D1 were set to BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
DDG2P v0.1 AK2 Rebecca Foulger gene: AK2 was added
gene: AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AK2 were set to 19043417; 19043416
Phenotypes for gene: AK2 were set to RETICULAR DYSGENESIS 267500
DDG2P v0.1 AIRE Rebecca Foulger gene: AIRE was added
gene: AIRE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIRE were set to 9398839
Phenotypes for gene: AIRE were set to AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300
DDG2P v0.1 AIPL1 Rebecca Foulger gene: AIPL1 was added
gene: AIPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIPL1 were set to 10615133; 10873396
Phenotypes for gene: AIPL1 were set to LEBER CONGENITAL AMAUROSIS 4 604393
DDG2P v0.1 AIMP1 Rebecca Foulger gene: AIMP1 was added
gene: AIMP1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 21092922
Phenotypes for gene: AIMP1 were set to LEUKODYSTROPHY, HYPOMYELINATING, 3 260600
DDG2P v0.1 AIFM1 Rebecca Foulger Added phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 319521 for gene: AIFM1
Publications for gene AIFM1 were changed from 23217327 to 20362274
DDG2P v0.1 AIFM1 Rebecca Foulger gene: AIFM1 was added
gene: AIFM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AIFM1 were set to 23217327
Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME
Mode of pathogenicity for gene: AIFM1 was set to Other - please provide details in the comments
DDG2P v0.1 AHI1 Rebecca Foulger gene: AHI1 was added
gene: AHI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHI1 were set to 16453322
Phenotypes for gene: AHI1 were set to JOUBERT SYNDROME 614615
DDG2P v0.1 AHDC1 Rebecca Foulger gene: AHDC1 was added
gene: AHDC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AHDC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AHDC1 were set to 24791903
Phenotypes for gene: AHDC1 were set to XIA-GIBBS SYNDROME 615829
DDG2P v0.1 AGXT Rebecca Foulger gene: AGXT was added
gene: AGXT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGXT were set to 8101040
Phenotypes for gene: AGXT were set to HYPEROXALURIA, PRIMARY, TYPE 1 259900
DDG2P v0.1 AGTR2 Rebecca Foulger gene: AGTR2 was added
gene: AGTR2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: AGTR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AGTR2 were set to X-LINKED MENTAL RETARDATION 88 290909
DDG2P v0.1 AGPS Rebecca Foulger gene: AGPS was added
gene: AGPS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGPS were set to 7807941; 11152660
Phenotypes for gene: AGPS were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121
Mode of pathogenicity for gene: AGPS was set to Other - please provide details in the comments
DDG2P v0.1 AGL Rebecca Foulger gene: AGL was added
gene: AGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGL were set to 11378828; 9490286; 8755644; 10571954; 8990006; 19834502; 9412782; 10655153; 10925384; 8702417
Phenotypes for gene: AGL were set to GLYCOGEN STORAGE DISEASE TYPE III 232400
DDG2P v0.1 AGK Rebecca Foulger gene: AGK was added
gene: AGK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGK were set to 15168109; 22284826; 22277967; 3560758
Phenotypes for gene: AGK were set to SENGERS SYNDROME 212350
DDG2P v0.1 AGA Rebecca Foulger gene: AGA was added
gene: AGA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AGA were set to 6883788; 1765378; 8776587
Phenotypes for gene: AGA were set to ASPARTYLGLUCOSAMINURIA 208400
DDG2P v0.1 AFG3L2 Rebecca Foulger Added phenotypes ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE 614487 for gene: AFG3L2
Publications for gene AFG3L2 were changed from 20208537 to 22964162
DDG2P v0.1 AFG3L2 Rebecca Foulger gene: AFG3L2 was added
gene: AFG3L2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: AFG3L2 were set to 20208537
Phenotypes for gene: AFG3L2 were set to SPINOCEREBELLAR ATAXIA 28 610246
DDG2P v0.1 AFF4 Rebecca Foulger gene: AFF4 was added
gene: AFF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AFF4 were set to 25730767
Phenotypes for gene: AFF4 were set to CORNELIA DE LANGE-LIKE SYNDROME
Mode of pathogenicity for gene: AFF4 was set to Other - please provide details in the comments
DDG2P v0.1 AFF3 Rebecca Foulger gene: AFF3 was added
gene: AFF3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AFF3 were set to 100000
Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease
Mode of pathogenicity for gene: AFF3 was set to Other - please provide details in the comments
DDG2P v0.1 AFF2 Rebecca Foulger gene: AFF2 was added
gene: AFF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: AFF2 were set to 21739600; 8334699
Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME 309548
DDG2P v0.1 ADSL Rebecca Foulger gene: ADSL was added
gene: ADSL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSL were set to 10090474; 18830228; 6150139; 12016589; 9545543
Phenotypes for gene: ADSL were set to ADENYLOSUCCINASE DEFICIENCY 103050
Mode of pathogenicity for gene: ADSL was set to Other - please provide details in the comments
DDG2P v0.1 ADRA2B Rebecca Foulger gene: ADRA2B was added
gene: ADRA2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADRA2B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADRA2B were set to 21937992
Phenotypes for gene: ADRA2B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ADRA2B was set to Other - please provide details in the comments
DDG2P v0.1 ADNP Rebecca Foulger gene: ADNP was added
gene: ADNP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ADNP were set to 24531329
Phenotypes for gene: ADNP were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873
DDG2P v0.1 ADK Rebecca Foulger gene: ADK was added
gene: ADK was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADK were set to 21937992
Phenotypes for gene: ADK were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
Mode of pathogenicity for gene: ADK was set to Other - please provide details in the comments
DDG2P v0.1 ADGRG6 Rebecca Foulger gene: ADGRG6 was added
gene: ADGRG6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG6 were set to 26004201
Phenotypes for gene: ADGRG6 were set to LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503
DDG2P v0.1 ADGRG1 Rebecca Foulger gene: ADGRG1 was added
gene: ADGRG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADGRG1 were set to 15044805
Phenotypes for gene: ADGRG1 were set to POLYMICROGYRIA 606854
DDG2P v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR
DDG2P v0.1 ADAR Rebecca Foulger Added phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 for gene: ADAR
Publications for gene ADAR were changed from 12916015; 16935814; 17478391; 16817193 to 23001123
DDG2P v0.1 ADAR Rebecca Foulger gene: ADAR was added
gene: ADAR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 12916015; 16935814; 17478391; 16817193
Phenotypes for gene: ADAR were set to DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400
DDG2P v0.1 ADAMTS18 Rebecca Foulger gene: ADAMTS18 was added
gene: ADAMTS18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS18 were set to 21862674
Phenotypes for gene: ADAMTS18 were set to KNOBLOCH SYNDROME 2 608454
Mode of pathogenicity for gene: ADAMTS18 was set to Other - please provide details in the comments
DDG2P v0.1 ADA Rebecca Foulger gene: ADA was added
gene: ADA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 11807006; 8227344; 2783588; 1680289; 21228398; 980079; 8614422; 3182793; 3684597; 3475710; 8031011; 2166947; 9361033; 46025; 3839802; 9225964; 8673127
Phenotypes for gene: ADA were set to ADENOSINE DEAMINASE DEFICIENCY 102700
DDG2P v0.1 ACY1 Rebecca Foulger gene: ACY1 was added
gene: ACY1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 17562838; 16274666; 16465618
Phenotypes for gene: ACY1 were set to AMINOACYLASE-1 DEFICIENCY 609924
DDG2P v0.1 ACVR2B Rebecca Foulger gene: ACVR2B was added
gene: ACVR2B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACVR2B were set to HETEROTAXY SYNDROME 207574
Mode of pathogenicity for gene: ACVR2B was set to Other - please provide details in the comments
DDG2P v0.1 ACVR1 Rebecca Foulger gene: ACVR1 was added
gene: ACVR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACVR1 were set to 19330033; 16642017; 19085907; 18203193; 18830232
Phenotypes for gene: ACVR1 were set to FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100
Mode of pathogenicity for gene: ACVR1 was set to Other - please provide details in the comments
DDG2P v0.1 ACTL6B Rebecca Foulger gene: ACTL6B was added
gene: ACTL6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ACTL6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTL6B were set to 28867141
Phenotypes for gene: ACTL6B were set to Unspecified Neurodevelopmental Disorder
Mode of pathogenicity for gene: ACTL6B was set to Other - please provide details in the comments
DDG2P v0.1 ACTG1 Rebecca Foulger gene: ACTG1 was added
gene: ACTG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME
Mode of pathogenicity for gene: ACTG1 was set to Other - please provide details in the comments
DDG2P v0.1 ACTB Rebecca Foulger Added phenotypes ACTB Haploinsufficiency syndtome for gene: ACTB
Publications for gene ACTB were changed from 22366783 to 100000
DDG2P v0.1 ACTB Rebecca Foulger gene: ACTB was added
gene: ACTB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTB were set to 22366783
Phenotypes for gene: ACTB were set to BARAITSER-WINTER SYNDROME
DDG2P v0.1 ACTA2 Rebecca Foulger Added phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788 for gene: ACTA2
DDG2P v0.1 ACTA2 Rebecca Foulger gene: ACTA2 was added
gene: ACTA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ACTA2 were set to MOYAMOYA DISEASE 5 614042
Mode of pathogenicity for gene: ACTA2 was set to Other - please provide details in the comments
DDG2P v0.1 ACTA1 Rebecca Foulger gene: ACTA1 was added
gene: ACTA1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACTA1 were set to 10508519
Phenotypes for gene: ACTA1 were set to NEMALINE MYOPATHY 3
Mode of pathogenicity for gene: ACTA1 was set to Other - please provide details in the comments
DDG2P v0.1 ACSL4 Rebecca Foulger Added phenotypes MENTAL RETARDATION X-LINKED TYPE 63 300387 for gene: ACSL4
Publications for gene ACSL4 were changed from to 12525535; 11889465
DDG2P v0.1 ACSL4 Rebecca Foulger gene: ACSL4 was added
gene: ACSL4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194
DDG2P v0.1 ACP5 Rebecca Foulger gene: ACP5 was added
gene: ACP5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACP5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACP5 were set to 12786759; 21217752; 21217755; 16470600; 13524805
Phenotypes for gene: ACP5 were set to SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944
DDG2P v0.1 ACOX1 Rebecca Foulger gene: ACOX1 was added
gene: ACOX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACOX1 were set to 17458872; 8279468; 11815777; 2894756; 18536048
Phenotypes for gene: ACOX1 were set to ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470
DDG2P v0.1 ACO2 Rebecca Foulger gene: ACO2 was added
gene: ACO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACO2 were set to 22405087
Phenotypes for gene: ACO2 were set to INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559
DDG2P v0.1 ACBD6 Rebecca Foulger gene: ACBD6 was added
gene: ACBD6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 21937992
Phenotypes for gene: ACBD6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION
DDG2P v0.1 ACAT1 Rebecca Foulger gene: ACAT1 was added
gene: ACAT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAT1 were set to 1979337; 11914035; 7907600; 9700610; 4690360; 1715688; 1627655; 1346617
Phenotypes for gene: ACAT1 were set to ALPHA-METHYLACETOACETIC ACIDURIA 203750
DDG2P v0.1 ACAN Rebecca Foulger Added phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813 for gene: ACAN
DDG2P v0.1 ACAN Rebecca Foulger gene: ACAN was added
gene: ACAN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACAN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ACAN were set to SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361
DDG2P v0.1 ACADVL Rebecca Foulger gene: ACADVL was added
gene: ACADVL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADVL were set to 10790204; 9709714; 7479827; 7668252; 9546340; 11158518; 8554073
Phenotypes for gene: ACADVL were set to VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475
DDG2P v0.1 ACADS Rebecca Foulger gene: ACADS was added
gene: ACADS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADS were set to 2808706
Phenotypes for gene: ACADS were set to SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470
Mode of pathogenicity for gene: ACADS was set to Other - please provide details in the comments
DDG2P v0.1 ACADM Rebecca Foulger gene: ACADM was added
gene: ACADM was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACADM were set to 11409868; 1972503; 7603790; 11349232; 9158144; 1684086; 7929823; 6434827
Phenotypes for gene: ACADM were set to MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450
DDG2P v0.1 ACAD9 Rebecca Foulger gene: ACAD9 was added
gene: ACAD9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD9 were set to 21057504; 17564966
Phenotypes for gene: ACAD9 were set to ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126
DDG2P v0.1 ABL1 Rebecca Foulger gene: ABL1 was added
gene: ABL1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABL1 were set to 28288113
Phenotypes for gene: ABL1 were set to Congenital heart defects and skeletal malformations
Mode of pathogenicity for gene: ABL1 was set to Other - please provide details in the comments
DDG2P v0.1 ABHD5 Rebecca Foulger gene: ABHD5 was added
gene: ABHD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 11590543
Phenotypes for gene: ABHD5 were set to CHANARIN-DORFMAN SYNDROME 275630
DDG2P v0.1 ABCD4 Rebecca Foulger gene: ABCD4 was added
gene: ABCD4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD4 were set to 22922874
Phenotypes for gene: ABCD4 were set to METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857
DDG2P v0.1 ABCD1 Rebecca Foulger gene: ABCD1 was added
gene: ABCD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED 300100
DDG2P v0.1 ABCC9 Rebecca Foulger gene: ABCC9 was added
gene: ABCC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ABCC9 were set to CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850
Mode of pathogenicity for gene: ABCC9 was set to Other - please provide details in the comments
DDG2P v0.1 ABCC6 Rebecca Foulger gene: ABCC6 was added
gene: ABCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCC6 were set to 22209248
Phenotypes for gene: ABCC6 were set to ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473
DDG2P v0.1 ABCB7 Rebecca Foulger gene: ABCB7 was added
gene: ABCB7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310
Mode of pathogenicity for gene: ABCB7 was set to Other - please provide details in the comments
DDG2P v0.1 ABCB6 Rebecca Foulger gene: ABCB6 was added
gene: ABCB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCB6 were set to 22226084
Phenotypes for gene: ABCB6 were set to MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497
Mode of pathogenicity for gene: ABCB6 was set to Other - please provide details in the comments
DDG2P v0.1 ABCB11 Rebecca Foulger gene: ABCB11 was added
gene: ABCB11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 10579978; 16039748; 9806540
Phenotypes for gene: ABCB11 were set to ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847
DDG2P v0.1 AASS Rebecca Foulger gene: AASS was added
gene: AASS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AASS were set to 934735; 10775527
Phenotypes for gene: AASS were set to HYPERLYSINEMIA 238700
DDG2P v0.1 AARS Rebecca Foulger gene: AARS was added
gene: AARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: AARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AARS were set to 25817015
Phenotypes for gene: AARS were set to EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT.
DDG2P v0.1 AAAS Rebecca Foulger gene: AAAS was added
gene: AAAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AAAS were set to 11701718; 11159947; 18628786; 15173230; 11062474
Phenotypes for gene: AAAS were set to ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550
DDG2P v0.0 Ellen McDonagh Added Panel DDG2P
Set panel types to: GMS Rare Disease Virtual