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DDG2P v3.67 | COMP | Achchuthan Shanmugasundram Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.67 | COMP | Achchuthan Shanmugasundram Tag watchlist was removed from gene: COMP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.67 | COMP | Achchuthan Shanmugasundram Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.67 | COMP | Achchuthan Shanmugasundram Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.34 | MYH8 | Achchuthan Shanmugasundram Phenotypes for gene: MYH8 were changed from DISTAL ARTHROGRYPOSIS TYPE 158300; CARNEY COMPLEX VARIANT 608837 to DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300; CARNEY COMPLEX VARIANT, OMIM:608837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.33 | MYH8 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: ).; to: The DDG2P confidence category for the disease CARNEY COMPLEX VARIANT, OMIM:608837 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, altered gene product structure and potential IF respectively (PMIDs: 28377322;15282353). The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively. |
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DDG2P v3.24 | LDB3 | Achchuthan Shanmugasundram Phenotypes for gene: LDB3 were changed from LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493; CARDIOMYOPATHY DILATED TYPE 1C 601493; MYOPATHY MYOFIBRILLAR TYPE 4 609452 to MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | UQCRQ | Achchuthan Shanmugasundram reviewed gene: UQCRQ: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED, OMIM:319211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | UQCRFS1 | Achchuthan Shanmugasundram reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | UQCRB | Achchuthan Shanmugasundram reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED, OMIM:257827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | UBE2T | Achchuthan Shanmugasundram reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: 26046368; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP T, OMIM:616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TUBB3 | Achchuthan Shanmugasundram reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20074521, 20829227; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TUBB2A | Achchuthan Shanmugasundram reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24702957; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OMIM:615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TUBB | Achchuthan Shanmugasundram reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23246003, 26637975; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, OMIM:615771, Circumferential Skin Creases Kunze Type, OMIM:156610; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TTC19 | Achchuthan Shanmugasundram reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, OMIM:124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TMEM70 | Achchuthan Shanmugasundram reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: ; Publications: 21147908, 18953340; Phenotypes: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, OMIM:614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TMEM126B | Achchuthan Shanmugasundram reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27374774, 27374773; Phenotypes: Muscle Weakness and Isolated Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TAPT1 | Achchuthan Shanmugasundram reviewed gene: TAPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26365339; Phenotypes: COMPLEX LETHAL OSTEOCHONDRODYSPLASIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TACO1 | Achchuthan Shanmugasundram reviewed gene: TACO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SLX4 | Achchuthan Shanmugasundram reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 21240275, 21240277; Phenotypes: FANCONI ANEMIA COMPLEMENTATION GROUP P, OMIM:613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SELENOI | Achchuthan Shanmugasundram reviewed gene: SELENOI: Rating: GREEN; Mode of pathogenicity: ; Publications: 29500230, 28052917; Phenotypes: EPT1-related complex progressive hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SDHAF1 | Achchuthan Shanmugasundram reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX II DEFICIENCY, OMIM:252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SCO1 | Achchuthan Shanmugasundram reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | RSPH3 | Achchuthan Shanmugasundram reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26073779; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | RSPH1 | Achchuthan Shanmugasundram reviewed gene: RSPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993197; Phenotypes: PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | RMND1 | Achchuthan Shanmugasundram reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23022099; Phenotypes: ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT, OMIM:614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | RAD51C | Achchuthan Shanmugasundram reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20400963; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP 0, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PRRX1 | Achchuthan Shanmugasundram reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: Other; Publications: 23444262, 22211708; Phenotypes: AGNATHIA-OTOCEPHALY COMPLEX monoallelic, AGNATHIA-OTOCEPHALY COMPLEX biallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX7 | Achchuthan Shanmugasundram reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: 9090381, 9090382, 10083738, 12325024, 9090383; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11, OMIM:601757; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX6 | Achchuthan Shanmugasundram reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4, OMIM:601498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX3 | Achchuthan Shanmugasundram reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12, OMIM:603164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX2 | Achchuthan Shanmugasundram reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14630978, 10528859; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5, OMIM:170993; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX16 | Achchuthan Shanmugasundram reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9, OMIM:603360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX14 | Achchuthan Shanmugasundram reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K, OMIM:601791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX13 | Achchuthan Shanmugasundram reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13, OMIM:601789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX12 | Achchuthan Shanmugasundram reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3, OMIM:601758; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX10 | Achchuthan Shanmugasundram reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7, OMIM:602859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PEX1 | Achchuthan Shanmugasundram reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9398847; Phenotypes: PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1, OMIM:602136; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PET100 | Achchuthan Shanmugasundram reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PCYT2 | Achchuthan Shanmugasundram reviewed gene: PCYT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32889549, 31637422; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PALB2 | Achchuthan Shanmugasundram reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17200672, 17200671; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP N, OMIM:610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NUBPL | Achchuthan Shanmugasundram reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFV2 | Achchuthan Shanmugasundram reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26008862, 33811136; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFV1 | Achchuthan Shanmugasundram reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFS8 | Achchuthan Shanmugasundram reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFS7 | Achchuthan Shanmugasundram reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFS1 | Achchuthan Shanmugasundram reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010, LEIGH SYNDROME, OMIM:256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFB8 | Achchuthan Shanmugasundram reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429571; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFB3 | Achchuthan Shanmugasundram reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27091925, 22499348, 22277967; Phenotypes: NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFA6 | Achchuthan Shanmugasundram reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Early Onset Isolated Mitochondrial Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFA12 | Achchuthan Shanmugasundram reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: ; Publications: 33715266, 21617257; Phenotypes: NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFA1 | Achchuthan Shanmugasundram reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MYH8 | Achchuthan Shanmugasundram reviewed gene: MYH8: Rating: RED; Mode of pathogenicity: ; Publications: 28377322, 15282353; Phenotypes: DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300, CARNEY COMPLEX VARIANT, OMIM:608837; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MRPS2 | Achchuthan Shanmugasundram reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29576219; Phenotypes: Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MBOAT7 | Achchuthan Shanmugasundram reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616480; Phenotypes: Intellectual Disability Accompanied by Epilepsy and Autistic Features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | LRIT3 | Achchuthan Shanmugasundram reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23246293; Phenotypes: AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS, OMIM:615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | KMT2B | Achchuthan Shanmugasundram reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 27839873, 27992417; Phenotypes: Complex early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | KIF5C | Achchuthan Shanmugasundram reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23603762; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, OMIM:615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | KATNB1 | Achchuthan Shanmugasundram reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25521378, 25521379; Phenotypes: KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | GNPTG | Achchuthan Shanmugasundram reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: 10712439, 20034096, 19659762, 19370764, 34341521; Phenotypes: MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C, OMIM:252605; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | GNPTAB | Achchuthan Shanmugasundram reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: 19197337, 16116615, 16465621, 16200072, 16094673, 15633164, 34341521; Phenotypes: MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A, OMIM:252600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FOXRED1 | Achchuthan Shanmugasundram reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20818383, 11181577, 17262856, 15824269, 9463323, 19185523, 11349233, 10944442, 12616398, 20858599, 20382551, 15159508, 21203893, 10080174, 16200211, 22499348, 10330338, 9837812, 23553477; Phenotypes: MITOCHONDRIAL COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FANCG | Achchuthan Shanmugasundram reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 15657175, 10807541, 9806548, 12552564; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP G, OMIM:614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FANCF | Achchuthan Shanmugasundram reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 26033879, 10615118, 9382107; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP F, OMIM:603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FANCE | Achchuthan Shanmugasundram reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 10205272, 9382107, 11001585; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP E, OMIM:600901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FANCD2 | Achchuthan Shanmugasundram reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11239453; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D2, OMIM:227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FANCC | Achchuthan Shanmugasundram reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20869034, 8348157, 10431244; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP C, OMIM:227645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | FANCA | Achchuthan Shanmugasundram reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 12447395, 11344308, 12827451, 10431244, 8896564, 15523645; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP A, OMIM:227650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ERF | Achchuthan Shanmugasundram reviewed gene: ERF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354439, 35852485, 27738187; Phenotypes: COMPLEX CRANIOSYNOSTOSIS, Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ERCC5 | Achchuthan Shanmugasundram reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11228268, 12060391, 7951246, 9096355, 23255472, 11841555, 11219864, 8818951; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G, OMIM:278780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ERCC4 | Achchuthan Shanmugasundram reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 3372781, 23623389, 17183314, 23623386, 8797827; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP Q, OMIM:615272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ERCC3 | Achchuthan Shanmugasundram reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 4811796, 8408834; Phenotypes: XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B, OMIM:610651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ELAC2 | Achchuthan Shanmugasundram reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849775, 27769300; Phenotypes: INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY, OMIM:252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | EIF2AK2 | Achchuthan Shanmugasundram reviewed gene: EIF2AK2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32197074; Phenotypes: EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DSTYK | Achchuthan Shanmugasundram reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: 23862974, 28157540; Phenotypes: Autosomal Recessive Complicated Spastic Paraparesis SPG23, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, OMIM:610805; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DDHD2 | Achchuthan Shanmugasundram reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176823; Phenotypes: COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CYC1 | Achchuthan Shanmugasundram reviewed gene: CYC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23910460; Phenotypes: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OMIM:615453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | COX6B1 | Achchuthan Shanmugasundram reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | COX14 | Achchuthan Shanmugasundram reviewed gene: COX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | COMP | Achchuthan Shanmugasundram reviewed gene: COMP: Rating: RED; Mode of pathogenicity: Other; Publications: 9021009, 9463320, 12483304, 7670472, 9887340; Phenotypes: MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | COA5 | Achchuthan Shanmugasundram reviewed gene: COA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CARS2 | Achchuthan Shanmugasundram reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25361775, 25787132; Phenotypes: Epileptic encephalopathy with complex movement disorder and regression; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | BRIP1 | Achchuthan Shanmugasundram reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116424; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP J, OMIM:609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | BRCA2 | Achchuthan Shanmugasundram reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15070707, 12065746, 14670928; Phenotypes: FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1, OMIM:605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | APOPT1 | Achchuthan Shanmugasundram reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25175347, 27588451; Phenotypes: MITOCHONDRIAL COMPLEX IV DEFICIENCY, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | UQCRFS1 |
Achchuthan Shanmugasundram gene: UQCRFS1 was added gene: UQCRFS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UQCRFS1 were set to 31883641 Phenotypes for gene: UQCRFS1 were set to Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis |
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DDG2P v3.11 | PCYT2 |
Achchuthan Shanmugasundram gene: PCYT2 was added gene: PCYT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 32889549; 31637422 Phenotypes for gene: PCYT2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033 |
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DDG2P v3.11 | NDUFV2 |
Achchuthan Shanmugasundram gene: NDUFV2 was added gene: NDUFV2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 26008862; 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 Mode of pathogenicity for gene: NDUFV2 was set to Other |
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DDG2P v3.11 | NDUFB3 |
Achchuthan Shanmugasundram gene: NDUFB3 was added gene: NDUFB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB3 were set to 27091925; 22499348; 22277967 Phenotypes for gene: NDUFB3 were set to NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246 |
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DDG2P v3.11 | NDUFA12 |
Achchuthan Shanmugasundram gene: NDUFA12 was added gene: NDUFA12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA12 were set to 33715266; 21617257 Phenotypes for gene: NDUFA12 were set to NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244 |
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DDG2P v3.11 | KATNB1 |
Achchuthan Shanmugasundram gene: KATNB1 was added gene: KATNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KATNB1 were set to 25521378; 25521379 Phenotypes for gene: KATNB1 were set to KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS |
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DDG2P v3.11 | EIF2AK2 |
Achchuthan Shanmugasundram gene: EIF2AK2 was added gene: EIF2AK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EIF2AK2 were set to 32197074 Phenotypes for gene: EIF2AK2 were set to EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation Mode of pathogenicity for gene: EIF2AK2 was set to Other |
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DDG2P v3.11 | COMP |
Achchuthan Shanmugasundram Source Expert Review Red was added to COMP. Mode of pathogenicity for gene COMP was changed from Other - please provide details in the comments to Other Publications for gene: COMP were updated from 9463320; 7670472; 9887340; 12483304; 9021009 to 9021009; 9463320; 12483304; 7670472; 9887340 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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DDG2P v3.2 | DMPK_CTG | Eleanor Williams commented on STR: DMPK_CTG: Removed the Q3_21_rating and Q3_21_expert_review tags because this STR is green on other component panels of the Paediatric disorders superpanel and so does not need to be green here. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.68 | PEX6 | Sarah Leigh changed review comment from: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; to: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.67 | PEX6 | Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed phenotypes to: 29220678; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.67 | PEX6 | Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal in order to detect the dominant Peroxisome biogenesis disorder 4B. Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.66 | PEX6 | Sarah Leigh Phenotypes for gene: PEX6 were changed from ZELLWEGER SYNDROME 214100; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498 to Heimler syndrome 2, OMIM:616617; Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862; Peroxisome biogenesis disorder 4B, OMIM:614863 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.53 | FGF5 |
Anna de Burca gene: FGF5 was added gene: FGF5 was added to DDG2P. Sources: Literature Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF5 were set to PMID: 24989505 Phenotypes for gene: FGF5 were set to Hypertrichosis; long eyelashes Penetrance for gene: FGF5 were set to Complete Review for gene: FGF5 was set to GREEN Added comment: Segregates with phenotype in two consanguineous families in publication attached. Additional unpublished case with same phenotype. Sources: Literature |
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DDG2P v2.50 | ATG7 |
Dmitrijs Rots gene: ATG7 was added gene: ATG7 was added to DDG2P. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to PMID:34161705 Phenotypes for gene: ATG7 were set to developmental delay; ataxia Review for gene: ATG7 was set to GREEN Added comment: Zornitsa Stark wrote for this gene in Ataxia panel: "12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk. Functional data including mouse model. " Should be also on ID panel. Sources: Literature |
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DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK gene was demoted and this STR was added to ensure that cases are appropriately captured. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova changed review comment from: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.; to: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the the DMPK gene was demoted and this STR was added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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DDG2P v2.37 | DMPK_CTG |
Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1). As DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR has been added to capture this entity and ensure that cases are detected. Only relevant in a paediatric setting if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel. |
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DDG2P v2.35 | DMPK |
Arina Puzriakova Added comment: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. However, the evidence level for this expansion is high (it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1), and as DDG2P is a component of the Paediatric disorders super panel, the DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected. |
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DDG2P v2.32 | ATP6V1A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Despite the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of both biallelic and monoallelic variants in ATP6V1A. As DDG2P is a component panel of the Paediatric disorders super panel, the MOI has been updated from 'Biallelic' to 'Both mono- and biallelic' to ensure that all cases are captured. |
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DDG2P v2.30 | ATAD3A |
Arina Puzriakova Added comment: Comment on mode of inheritance: Although the MOI has been set to 'Monoallelic' only, to reflect the different disease confidence ratings associated with each MOI in G2P, there is enough evidence in the literature to support pathogenicity of biallelic variants in ATAD3A. As DDG2P is a component panel of the Paediatric disorders super panel, the MOI should be updated to 'Both mono- and biallelic' to ensure that all cases are captured. |
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DDG2P v2.2 | Rebecca Foulger Panel types changed to GMS Rare Disease; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.181 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.177 | Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.159 | COMP |
Rebecca Foulger commented on gene: COMP: As of November 26th 2019: DDG2P rating confirmed for PSEUDOACHONDROPLASIA (monoallelic, dominant negative). DDG2P rating possible for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 (monoallelic, dominant negative). Added 'watchlist' tag to highlight different G2P ratings for different disorders. |
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DDG2P v1.159 | COMP | Rebecca Foulger changed review comment from: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorers: dominant negative ; to: Original DDG2P rating: confirmed (for all listed disorders). DDG2P mode of pathogenicity for both disorders: dominant negative | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.159 | COMP | Rebecca Foulger Phenotypes for gene: COMP were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 to MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400; PSEUDOACHONDROPLASIA, 177170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.158 | COMP | Rebecca Foulger Tag watchlist tag was added to gene: COMP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.131 | LDB3 | Rebecca Foulger commented on gene: LDB3: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for CARDIOMYOPATHY DILATED TYPE 1C; LEFT VENTRICULAR NON-COMPACTION TYPE 3; MYOPATHY MYOFIBRILLAR TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.131 | BRCA2 | Rebecca Foulger commented on gene: BRCA2: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.131 | MYH8 | Rebecca Foulger commented on gene: MYH8: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for DISTAL ARTHROGRYPOSIS TYPE; CARNEY COMPLEX VARIANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.105 | TUBB | Rebecca Foulger Phenotypes for gene: TUBB were changed from Circumferential Skin Creases Kunze Type; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 to Circumferential Skin Creases Kunze Type 156610; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.41 | SIM1 | Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.37 | NDUFB8 |
Rebecca Foulger gene: NDUFB8 was added gene: NDUFB8 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB8 were set to 29429571 Phenotypes for gene: NDUFB8 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY, 252010 |
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DDG2P v1.37 | NDUFA6 |
Rebecca Foulger gene: NDUFA6 was added gene: NDUFA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA6 were set to 30245030 Phenotypes for gene: NDUFA6 were set to Early Onset Isolated Mitochondrial Complex I Deficiency |
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DDG2P v1.37 | MRPS2 |
Rebecca Foulger gene: MRPS2 was added gene: MRPS2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS2 were set to 29576219 Phenotypes for gene: MRPS2 were set to Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies Mode of pathogenicity for gene: MRPS2 was set to Other - please provide details in the comments |
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DDG2P v1.15 | DSTYK | Rebecca Foulger Phenotypes for gene: DSTYK were changed from CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805; Autosomal Recessive Complicated Spastic Paraparesis SPG23 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.14 | DSTYK | Rebecca Foulger commented on gene: DSTYK: Added 'watchlist' tag to highlight different Disease confidence ratings in DD-G2P: Confirmed for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1. Probable for Autosomal Recessive Complicated Spastic Paraparesis SPG23 (Added to G2P in March 2019). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.14 | DSTYK | Rebecca Foulger commented on gene: DSTYK: Multiple MOIs in Gene2Phenotype: 'monoallelic' for CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1, and 'biallelic' for Autosomal Recessive Complicated Spastic Paraparesis SPG23. Kept MOI in PanelApp as 'monoallelic' because 'CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1' is 'confirmed', and Autosomal Recessive Complicated Spastic Paraparesis SPG23 is 'probable'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.14 | DSTYK | Rebecca Foulger commented on gene: DSTYK: New gene:disorder association added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.9 | TTN | Rebecca Foulger commented on gene: TTN: PMID:29575618 (Chervinsky et al 2018) evaluate a consanguineous family of Moslem Bedouin origin with lethal congenital contracture syndrome and a homozygous c.36122delC (p. P12041Lfs*20) variant in TTN. 8 affected individuals (newborns and fetuses) were studied. Six of the affecteds were diagnosed prenatally by fetal ultrasound and two were diagnosed at birth. One pregnancy was complicated with fetal hydrops, and polyhydramnios was noted in at least three affecteds. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.95 | MYH8 | Rebecca Foulger commented on gene: MYH8: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.95 | LDB3 | Rebecca Foulger commented on gene: LDB3: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for LEFT VENTRICULAR NON-COMPACTION TYPE 3; CARDIOMYOPATHY DILATED TYPE 1C; MYOPATHY MYOFIBRILLAR TYPE 4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.95 | BRCA2 | Rebecca Foulger commented on gene: BRCA2: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.46 | PRRX1 | Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update 09/01/2019: 'AGNATHIA-OTOCEPHALY COMPLEX 202650' phenotype replaced. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.46 | PRRX1 | Rebecca Foulger Phenotypes for gene: PRRX1 were changed from AGNATHIA-OTOCEPHALY COMPLEX 202650 to AGNATHIA-OTOCEPHALY COMPLEX biallelic; AGNATHIA-OTOCEPHALY COMPLEX monoallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.22 | Louise Daugherty Panel types changed to GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | COMP | Rebecca Foulger reviewed gene: COMP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | UQCRQ |
Rebecca Foulger gene: UQCRQ was added gene: UQCRQ was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED 319211 Mode of pathogenicity for gene: UQCRQ was set to Other - please provide details in the comments |
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DDG2P v0.1 | UQCRB |
Rebecca Foulger gene: UQCRB was added gene: UQCRB was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED 257827 |
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DDG2P v0.1 | UBE2T |
Rebecca Foulger gene: UBE2T was added gene: UBE2T was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE2T were set to 26046368 Phenotypes for gene: UBE2T were set to FANCONI ANEMIA, COMPLEMENTATION GROUP T 616435 |
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DDG2P v0.1 | TUBB3 |
Rebecca Foulger Added phenotypes CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 614039 for gene: TUBB3 Publications for gene TUBB3 were changed from 20074521 to 20829227 |
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DDG2P v0.1 | TUBB2A |
Rebecca Foulger gene: TUBB2A was added gene: TUBB2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB2A were set to 24702957 Phenotypes for gene: TUBB2A were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 615763 Mode of pathogenicity for gene: TUBB2A was set to Other - please provide details in the comments |
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DDG2P v0.1 | TUBB |
Rebecca Foulger gene: TUBB was added gene: TUBB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TUBB were set to 23246003 Phenotypes for gene: TUBB were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 Mode of pathogenicity for gene: TUBB was set to Other - please provide details in the comments |
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DDG2P v0.1 | TTC19 |
Rebecca Foulger gene: TTC19 was added gene: TTC19 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC19 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY 124000 |
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DDG2P v0.1 | TMEM70 |
Rebecca Foulger gene: TMEM70 was added gene: TMEM70 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 18953340; 21147908 Phenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052 |
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DDG2P v0.1 | TMEM126B |
Rebecca Foulger gene: TMEM126B was added gene: TMEM126B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM126B were set to 27374774; 27374773 Phenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency |
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DDG2P v0.1 | TAPT1 |
Rebecca Foulger gene: TAPT1 was added gene: TAPT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 26365339 Phenotypes for gene: TAPT1 were set to COMPLEX LETHAL OSTEOCHONDRODYSPLASIA |
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DDG2P v0.1 | TACO1 |
Rebecca Foulger gene: TACO1 was added gene: TACO1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY 256000 |
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DDG2P v0.1 | SURF1 | Rebecca Foulger Added phenotypes COMPLEX IV DEFICIENCY 220110 for gene: SURF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SLX4 |
Rebecca Foulger gene: SLX4 was added gene: SLX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLX4 were set to 21240277; 21240275 Phenotypes for gene: SLX4 were set to FANCONI ANEMIA COMPLEMENTATION GROUP P 613951 |
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DDG2P v0.1 | SELENOI |
Rebecca Foulger gene: SELENOI was added gene: SELENOI was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SELENOI was set to Publications for gene: SELENOI were set to 28052917; 29500230 Phenotypes for gene: SELENOI were set to EPT1-related complex progressive hereditary spastic paraplegia |
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DDG2P v0.1 | SDHAF1 |
Rebecca Foulger gene: SDHAF1 was added gene: SDHAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to MITOCHONDRIAL COMPLEX II DEFICIENCY 252011 Mode of pathogenicity for gene: SDHAF1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | SCO1 |
Rebecca Foulger gene: SCO1 was added gene: SCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | RSPH3 |
Rebecca Foulger gene: RSPH3 was added gene: RSPH3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPH3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH3 were set to 26073779 Phenotypes for gene: RSPH3 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS |
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DDG2P v0.1 | RSPH1 |
Rebecca Foulger gene: RSPH1 was added gene: RSPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSPH1 were set to 23993197 Phenotypes for gene: RSPH1 were set to PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS |
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DDG2P v0.1 | RMND1 |
Rebecca Foulger gene: RMND1 was added gene: RMND1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMND1 were set to 23022099 Phenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT 614922 Mode of pathogenicity for gene: RMND1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | RAD51C |
Rebecca Foulger gene: RAD51C was added gene: RAD51C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD51C were set to 20400963 Phenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0 613390 Mode of pathogenicity for gene: RAD51C was set to Other - please provide details in the comments |
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DDG2P v0.1 | PRRX1 | Rebecca Foulger Added phenotypes AGNATHIA-OTOCEPHALY COMPLEX 202650 for gene: PRRX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PRRX1 |
Rebecca Foulger gene: PRRX1 was added gene: PRRX1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRX1 were set to 22211708; 23444262 Phenotypes for gene: PRRX1 were set to AGNATHIA-OTOCEPHALY COMPLEX 202650 Mode of pathogenicity for gene: PRRX1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | PEX7 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757 for gene: PEX7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PEX6 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498 for gene: PEX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PEX3 |
Rebecca Foulger gene: PEX3 was added gene: PEX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX3 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 603164 |
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DDG2P v0.1 | PEX26 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 608666 for gene: PEX26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PEX2 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 170993 for gene: PEX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PEX19 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279 for gene: PEX19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PEX16 |
Rebecca Foulger gene: PEX16 was added gene: PEX16 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360 |
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DDG2P v0.1 | PEX14 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791 for gene: PEX14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PEX13 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789 for gene: PEX13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PEX12 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758 for gene: PEX12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PEX10 | Rebecca Foulger Added phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859 for gene: PEX10 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PEX1 |
Rebecca Foulger gene: PEX1 was added gene: PEX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX1 were set to PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136 |
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DDG2P v0.1 | PET100 |
Rebecca Foulger gene: PET100 was added gene: PET100 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | PALB2 |
Rebecca Foulger gene: PALB2 was added gene: PALB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PALB2 were set to 17200671; 17200672 Phenotypes for gene: PALB2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832 |
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DDG2P v0.1 | NUBPL |
Rebecca Foulger gene: NUBPL was added gene: NUBPL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUBPL were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | NDUFV1 |
Rebecca Foulger gene: NDUFV1 was added gene: NDUFV1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFV1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NDUFS8 |
Rebecca Foulger gene: NDUFS8 was added gene: NDUFS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS8 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Mode of pathogenicity for gene: NDUFS8 was set to Other - please provide details in the comments |
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DDG2P v0.1 | NDUFS7 |
Rebecca Foulger gene: NDUFS7 was added gene: NDUFS7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | NDUFS4 |
Rebecca Foulger gene: NDUFS4 was added gene: NDUFS4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFS4 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | NDUFS1 | Rebecca Foulger Added phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 for gene: NDUFS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NDUFA1 |
Rebecca Foulger gene: NDUFA1 was added gene: NDUFA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | MYH8 |
Rebecca Foulger gene: MYH8 was added gene: MYH8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH8 were set to CARNEY COMPLEX VARIANT 608837 |
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DDG2P v0.1 | MBOAT7 |
Rebecca Foulger gene: MBOAT7 was added gene: MBOAT7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MBOAT7 were set to 27616480 Phenotypes for gene: MBOAT7 were set to Intellectual Disability Accompanied by Epilepsy and Autistic Features |
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DDG2P v0.1 | LRIT3 |
Rebecca Foulger gene: LRIT3 was added gene: LRIT3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LRIT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRIT3 were set to 23246293 Phenotypes for gene: LRIT3 were set to AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS 615058 |
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DDG2P v0.1 | LDB3 |
Rebecca Foulger gene: LDB3 was added gene: LDB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LDB3 were set to LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493 Mode of pathogenicity for gene: LDB3 was set to Other - please provide details in the comments |
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DDG2P v0.1 | KMT2B |
Rebecca Foulger gene: KMT2B was added gene: KMT2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT2B were set to 27992417; 27839873 Phenotypes for gene: KMT2B were set to Complex early-onset dystonia |
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DDG2P v0.1 | KIF5C |
Rebecca Foulger gene: KIF5C was added gene: KIF5C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: KIF5C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KIF5C were set to 23603762 Phenotypes for gene: KIF5C were set to CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282 Mode of pathogenicity for gene: KIF5C was set to Other - please provide details in the comments |
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DDG2P v0.1 | GNPTG |
Rebecca Foulger gene: GNPTG was added gene: GNPTG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPTG were set to 20034096; 19659762; 10712439; 19370764 Phenotypes for gene: GNPTG were set to MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605 |
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DDG2P v0.1 | GNPTAB |
Rebecca Foulger Added phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600 for gene: GNPTAB Publications for gene GNPTAB were changed from 16200072; 16465621; 16116615 to 16094673; 15633164; 16116615; 19197337 |
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DDG2P v0.1 | FOXRED1 |
Rebecca Foulger gene: FOXRED1 was added gene: FOXRED1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXRED1 were set to 10944442; 20818383; 10080174; 23553477; 12616398; 11349233; 22499348; 10330338; 19185523; 20382551; 15824269; 16200211; 9463323; 11181577; 20858599; 15159508; 9837812; 17262856; 21203893 Phenotypes for gene: FOXRED1 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | FANCG |
Rebecca Foulger gene: FANCG was added gene: FANCG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCG were set to 12552564; 10807541; 15657175; 9806548 Phenotypes for gene: FANCG were set to FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082 |
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DDG2P v0.1 | FANCF |
Rebecca Foulger gene: FANCF was added gene: FANCF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCF were set to 10615118; 9382107 Phenotypes for gene: FANCF were set to FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467 |
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DDG2P v0.1 | FANCE |
Rebecca Foulger gene: FANCE was added gene: FANCE was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCE were set to 10205272; 11001585; 9382107 Phenotypes for gene: FANCE were set to FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901 |
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DDG2P v0.1 | FANCD2 |
Rebecca Foulger gene: FANCD2 was added gene: FANCD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCD2 were set to 11239453 Phenotypes for gene: FANCD2 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646 |
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DDG2P v0.1 | FANCC |
Rebecca Foulger gene: FANCC was added gene: FANCC was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 20869034; 8348157; 10431244 Phenotypes for gene: FANCC were set to FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645 |
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DDG2P v0.1 | FANCA |
Rebecca Foulger gene: FANCA was added gene: FANCA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCA were set to 8896564; 10431244; 12447395; 11344308; 12827451; 15523645 Phenotypes for gene: FANCA were set to FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650 |
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DDG2P v0.1 | ERF |
Rebecca Foulger gene: ERF was added gene: ERF was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ERF were set to 23354439 Phenotypes for gene: ERF were set to COMPLEX CRANIOSYNOSTOSIS |
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DDG2P v0.1 | ERCC5 |
Rebecca Foulger gene: ERCC5 was added gene: ERCC5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC5 were set to 11219864; 23255472; 9096355; 12060391; 7951246; 8818951; 11841555; 11228268 Phenotypes for gene: ERCC5 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780 |
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DDG2P v0.1 | ERCC4 |
Rebecca Foulger gene: ERCC4 was added gene: ERCC4 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 23623386 Phenotypes for gene: ERCC4 were set to FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272 |
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DDG2P v0.1 | ERCC3 |
Rebecca Foulger gene: ERCC3 was added gene: ERCC3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC3 were set to 4811796; 16947863; 8408834 Phenotypes for gene: ERCC3 were set to XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651 |
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DDG2P v0.1 | ERCC2 |
Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730 for gene: ERCC2 Publications for gene ERCC2 were changed from 11443545 to 9101292; 7849702; 7585650; 11443545; 11709541 |
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DDG2P v0.1 | ELAC2 |
Rebecca Foulger gene: ELAC2 was added gene: ELAC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELAC2 were set to 23849775; 27769300 Phenotypes for gene: ELAC2 were set to INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010 |
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DDG2P v0.1 | DDHD2 |
Rebecca Foulger gene: DDHD2 was added gene: DDHD2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DDHD2 were set to 23176823 Phenotypes for gene: DDHD2 were set to COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033 |
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DDG2P v0.1 | CYC1 |
Rebecca Foulger gene: CYC1 was added gene: CYC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CYC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYC1 were set to 23910460 Phenotypes for gene: CYC1 were set to MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453 Mode of pathogenicity for gene: CYC1 was set to Other - please provide details in the comments |
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DDG2P v0.1 | COX6B1 |
Rebecca Foulger gene: COX6B1 was added gene: COX6B1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX6B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX6B1 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | COX15 |
Rebecca Foulger gene: COX15 was added gene: COX15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX15 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | COX14 |
Rebecca Foulger gene: COX14 was added gene: COX14 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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DDG2P v0.1 | COX10 |
Rebecca Foulger Added phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 for gene: COX10 Publications for gene COX10 were changed from 10944442; 20818383; 15214016; 9837813; 22499348; 19107570; 12928484; 15863660; 17604671; 10647889; 15455402; 9843204; 11317352; 10746566; 17275378 to 18499082; 10767350; 11013136; 10647889; 10545952 |
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DDG2P v0.1 | COMP |
Rebecca Foulger Added phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400 for gene: COMP Publications for gene COMP were changed from to 9463320; 7670472; 9887340; 12483304; 9021009 |
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DDG2P v0.1 | COMP |
Rebecca Foulger gene: COMP was added gene: COMP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COMP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COMP were set to ARE THE CAUSE OF PSEUDOACHONDROPLASIA 177170 Mode of pathogenicity for gene: COMP was set to Other - please provide details in the comments |
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DDG2P v0.1 | COA5 |
Rebecca Foulger gene: COA5 was added gene: COA5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: COA5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA5 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 |
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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 |
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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 |
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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 |
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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 |