Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.36 | LMNA | Achchuthan Shanmugasundram Phenotypes for gene: LMNA were changed from CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660; CARDIOMYOPATHY DILATED TYPE 1A 115200; HUTCHINSON-GILFORD PROGERIA SYNDROME 176670; LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210; HEART-HAND SYNDROME SLOVENIAN TYPE 610140; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 to EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588; HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ZMYND10 | Achchuthan Shanmugasundram reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: ; Publications: 23891471; Phenotypes: PRIMARY CILIARY DYSKINESIA-22, OMIM:615444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | TTC25 | Achchuthan Shanmugasundram reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: ; Publications: 27486780; Phenotypes: Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TTC12 | Achchuthan Shanmugasundram reviewed gene: TTC12: Rating: RED; Mode of pathogenicity: ; Publications: 31978331; Phenotypes: TTC12-related Primary Ciliary Dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TRPV4 | Achchuthan Shanmugasundram reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20425821, 19232556, 20577006, 21964829; Phenotypes: METATROPIC DYSPLASIA, OMIM:156530, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, OMIM:184252; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TP73 | Achchuthan Shanmugasundram reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761; Phenotypes: TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | TCTN3 | Achchuthan Shanmugasundram reviewed gene: TCTN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22883145; Phenotypes: MOHR-MAJEWSKI SYNDROME, OMIM:258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SPAG1 | Achchuthan Shanmugasundram reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24055112; Phenotypes: PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SKIV2L | Achchuthan Shanmugasundram reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: TRICHOHEPATOENTERIC SYNDROME 2, OMIM:614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | SKI | Achchuthan Shanmugasundram reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | RIN2 | Achchuthan Shanmugasundram reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19631308; Phenotypes: MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PTDSS1 | Achchuthan Shanmugasundram reviewed gene: PTDSS1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35224839, 24241535; Phenotypes: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, OMIM:151050, Developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | PIH1D3 | Achchuthan Shanmugasundram reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28041644, 28176794; Phenotypes: X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | NDUFB11 | Achchuthan Shanmugasundram reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME, OMIM:309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | MAPRE2 | Achchuthan Shanmugasundram reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26637975; Phenotypes: Circumferential Skin Creases Kunze Type, OMIM:156610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | LRRC6 | Achchuthan Shanmugasundram reviewed gene: LRRC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23122589; Phenotypes: PRIMARY CILIARY DYSKINESIA, OMIM:614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | KCNMA1 | Achchuthan Shanmugasundram reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34224328, 31152168, 27567911, 15937479, 33178487, 29545233, 32132200, 29330545; Phenotypes: KCNMA1-related developmental delay, seizures and cerebellar atrophy, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OMIM:609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | HYDIN | Achchuthan Shanmugasundram reviewed gene: HYDIN: Rating: GREEN; Mode of pathogenicity: ; Publications: 23022101, 14985390; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 5, OMIM:608647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | GAS8 | Achchuthan Shanmugasundram reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: ; Publications: 26387594; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | EXPH5 | Achchuthan Shanmugasundram reviewed gene: EXPH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176819; Phenotypes: INHERITED SKIN FRAGILITY, OMIM:615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DRC1 | Achchuthan Shanmugasundram reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23354437; Phenotypes: PRIMARY CILARY DYSKINESIA, OMIM:244400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DNAJB13 | Achchuthan Shanmugasundram reviewed gene: DNAJB13: Rating: RED; Mode of pathogenicity: ; Publications: 27486783; Phenotypes: Primary Ciliary Dyskinesia and Male Infertility; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DNAH5 | Achchuthan Shanmugasundram reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27637300; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 3, OMIM:608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DNAAF5 | Achchuthan Shanmugasundram reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23040496; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 18, OMIM:614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | DNAAF3 | Achchuthan Shanmugasundram reviewed gene: DNAAF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 22387996, 10745040; Phenotypes: PRIMARY CILIARY DYSKINEASIA, OMIM:606763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | COX7B | Achchuthan Shanmugasundram reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 9747372, 23122588; Phenotypes: MICROPHTHALMIA WITH LINEAR SKIN LESIONS, OMIM:300887; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CCNO | Achchuthan Shanmugasundram reviewed gene: CCNO: Rating: GREEN; Mode of pathogenicity: ; Publications: 24747639; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 29, OMIM:615872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CCDC65 | Achchuthan Shanmugasundram reviewed gene: CCDC65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CCDC40 | Achchuthan Shanmugasundram reviewed gene: CCDC40: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131974; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 15, OMIM:613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CCDC39 | Achchuthan Shanmugasundram reviewed gene: CCDC39: Rating: GREEN; Mode of pathogenicity: ; Publications: 21131972; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 14, OMIM:613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CCDC151 | Achchuthan Shanmugasundram reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: ; Publications: 25192045; Phenotypes: PRIMARY CILLARY DYSKINEASIA, OMIM:616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CCDC114 | Achchuthan Shanmugasundram reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: ; Publications: 23261303, 23261302; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CCDC103 | Achchuthan Shanmugasundram reviewed gene: CCDC103: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581229; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | CACNA1E | Achchuthan Shanmugasundram reviewed gene: CACNA1E: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30343943; Phenotypes: Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | C21orf59 | Achchuthan Shanmugasundram reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | C11orf70 | Achchuthan Shanmugasundram reviewed gene: C11orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: 29727692, 29727693; Phenotypes: PRIMARY CILIARY DYSKINESIA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ARMC4 | Achchuthan Shanmugasundram reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23849778; Phenotypes: CILIARY DYSKINESIA, PRIMARY, 23, OMIM:615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ALDH18A1 | Achchuthan Shanmugasundram reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26829900, 26297557, 26297558, 26320891, 28228640, 26026163; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES, OMIM:612652, SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, OMIM:601162, CUTIS LAXA, AUTOSOMAL DOMINANT 3, OMIM:616603; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | TTC12 |
Achchuthan Shanmugasundram gene: TTC12 was added gene: TTC12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC12 were set to 31978331 Phenotypes for gene: TTC12 were set to TTC12-related Primary Ciliary Dyskinesia |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | TP73 |
Achchuthan Shanmugasundram gene: TP73 was added gene: TP73 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 34077761 Phenotypes for gene: TP73 were set to TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | SKI | Achchuthan Shanmugasundram Mode of pathogenicity for gene SKI was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.76 | SKIV2L | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for SKIV2L is SKIC2.; to: Added new-gene-name tag, new approved HGNC gene symbol for SKIV2L is SKIC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.76 | TTC37 | Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for TTC37 is SKIC3.; to: Added new-gene-name tag, new approved HGNC gene symbol for TTC37 is SKIC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.76 | SKIV2L | Sarah Leigh Tag new-gene-name tag was added to gene: SKIV2L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.76 | SKIV2L | Sarah Leigh commented on gene: SKIV2L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.50 | ATG7 |
Dmitrijs Rots gene: ATG7 was added gene: ATG7 was added to DDG2P. Sources: Literature Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to PMID:34161705 Phenotypes for gene: ATG7 were set to developmental delay; ataxia Review for gene: ATG7 was set to GREEN Added comment: Zornitsa Stark wrote for this gene in Ataxia panel: "12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk. Functional data including mouse model. " Should be also on ID panel. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v2.49 | TMEM260 | Sarah Leigh edited their review of gene: TMEM260: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.131 | LMNA | Rebecca Foulger commented on gene: LMNA: September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for LETHAL TIGHT SKIN CONTRACTURE SYNDROME; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; HEART-HAND SYNDROME SLOVENIAN TYPE;HUTCHINSON-GILFORD PROGERIA SYNDROME; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED;CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.105 | 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 v1.78 | PIH1D3 | Rebecca Foulger changed review comment from: Original DDG2P rating: child IF. DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF.; to: Original DDG2P rating for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects: child IF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.62 | ALDH18A1 | Rebecca Foulger Added comment: Comment on mode of inheritance: DDG2P MOI is monoallelic for CUTIS LAXA, AUTOSOMAL DOMINANT 3;biallelic for MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES; monoallelic for SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT. All disorders have a confirmed Disease confidence rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.39 | C11orf70 | Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the DDG2P panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.37 | C11orf70 |
Rebecca Foulger gene: C11orf70 was added gene: C11orf70 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: C11orf70 was set to Publications for gene: C11orf70 were set to 29727693; 29727692 Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.12 | CACNA1E | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on new 'confirmed' gene-disease association added to DD-G2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. At the time of curation, the existing disorder (Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia) still has the DD-G2P Disease confidence of 'possible'. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v1.11 | CACNA1E | Rebecca Foulger commented on gene: CACNA1E: New gene:disorder association added to DDG2P in March 2019: Developmental and Epileptic Encephalopathy with Contractures Macrocephaly and Dyskinesias. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: activating. DDG2P mode of inheritance: monoallelic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.95 | PIH1D3 | Rebecca Foulger commented on gene: PIH1D3: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.95 | LMNA | Rebecca Foulger commented on gene: LMNA: Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for CARDIOMYOPATHY DILATED TYPE 1A; CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM; FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2; CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1; HUTCHINSON-GILFORD PROGERIA SYNDROME; MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED; MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B; LETHAL TIGHT SKIN CONTRACTURE SYNDROME; HEART-HAND SYNDROME SLOVENIAN TYPE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.18 | CACNA1E |
Rebecca Foulger gene: CACNA1E was added gene: CACNA1E was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CACNA1E were set to 30343943 Phenotypes for gene: CACNA1E were set to Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Mode of pathogenicity for gene: CACNA1E was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SKIV2L | Rebecca Foulger reviewed gene: SKIV2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | SKI | Rebecca Foulger reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | ZMYND10 |
Rebecca Foulger gene: ZMYND10 was added gene: ZMYND10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZMYND10 were set to 23891471 Phenotypes for gene: ZMYND10 were set to PRIMARY CILIARY DYSKINESIA-22 615444 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | TUBB |
Rebecca Foulger Added phenotypes Circumferential Skin Creases Kunze Type for gene: TUBB Publications for gene TUBB were changed from 23246003 to 26637975 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | TTC25 |
Rebecca Foulger gene: TTC25 was added gene: TTC25 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC25 were set to 27486780 Phenotypes for gene: TTC25 were set to Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | TRPV4 |
Rebecca Foulger gene: TRPV4 was added gene: TRPV4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TRPV4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPV4 were set to 20577006; 19232556 Phenotypes for gene: TRPV4 were set to SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252 Mode of pathogenicity for gene: TRPV4 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | TCTN3 |
Rebecca Foulger gene: TCTN3 was added gene: TCTN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN3 were set to 22883145 Phenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME 258860 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SPAG1 |
Rebecca Foulger gene: SPAG1 was added gene: SPAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SPAG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPAG1 were set to 24055112 Phenotypes for gene: SPAG1 were set to PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SKIV2L |
Rebecca Foulger gene: SKIV2L was added gene: SKIV2L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SKIV2L were set to TRICHOHEPATOENTERIC SYNDROME 2 615602 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | SKI |
Rebecca Foulger gene: SKI was added gene: SKI was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 Mode of pathogenicity for gene: SKI was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | RIN2 |
Rebecca Foulger gene: RIN2 was added gene: RIN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIN2 were set to 19631308 Phenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PTDSS1 |
Rebecca Foulger gene: PTDSS1 was added gene: PTDSS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTDSS1 were set to 24241535 Phenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050 Mode of pathogenicity for gene: PTDSS1 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PIH1D3 |
Rebecca Foulger gene: PIH1D3 was added gene: PIH1D3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIH1D3 were set to 28041644 Phenotypes for gene: PIH1D3 were set to X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | NDUFB11 |
Rebecca Foulger gene: NDUFB11 was added gene: NDUFB11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: NDUFB11 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: NDUFB11 were set to 25772934 Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | MAPRE2 |
Rebecca Foulger gene: MAPRE2 was added gene: MAPRE2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAPRE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPRE2 were set to 26637975 Phenotypes for gene: MAPRE2 were set to Circumferential Skin Creases Kunze Type Mode of pathogenicity for gene: MAPRE2 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | LRRC6 |
Rebecca Foulger gene: LRRC6 was added gene: LRRC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRRC6 were set to 23122589 Phenotypes for gene: LRRC6 were set to PRIMARY CILIARY DISKINESIA 614935 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | LMNA | Rebecca Foulger Added phenotypes LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210 for gene: LMNA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | KCNMA1 |
Rebecca Foulger gene: KCNMA1 was added gene: KCNMA1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNMA1 were set to 15937479 Phenotypes for gene: KCNMA1 were set to GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446 Mode of pathogenicity for gene: KCNMA1 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | HYDIN |
Rebecca Foulger gene: HYDIN was added gene: HYDIN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYDIN were set to 14985390; 23022101 Phenotypes for gene: HYDIN were set to CILIARY DYSKINESIA, PRIMARY, 5 608647 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GAS8 |
Rebecca Foulger gene: GAS8 was added gene: GAS8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAS8 were set to 26387594 Phenotypes for gene: GAS8 were set to PRIMARY CILIARY DYSKINESIA |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | EXPH5 |
Rebecca Foulger gene: EXPH5 was added gene: EXPH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: EXPH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXPH5 were set to 23176819 Phenotypes for gene: EXPH5 were set to INHERITED SKIN FRAGILITY 615028 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DRC1 |
Rebecca Foulger gene: DRC1 was added gene: DRC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DRC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRC1 were set to 23354437 Phenotypes for gene: DRC1 were set to PRIMARY CILARY DYSKINEASIA 244400 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DNAJB13 |
Rebecca Foulger gene: DNAJB13 was added gene: DNAJB13 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJB13 were set to 27486783 Phenotypes for gene: DNAJB13 were set to Primary Ciliary Dyskinesia and Male Infertility |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DNAH5 |
Rebecca Foulger gene: DNAH5 was added gene: DNAH5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH5 were set to 27637300 Phenotypes for gene: DNAH5 were set to CILIARY DYSKINESIA, PRIMARY, 3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DNAAF5 |
Rebecca Foulger gene: DNAAF5 was added gene: DNAAF5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF5 were set to 23040496 Phenotypes for gene: DNAAF5 were set to CILIARY DYSKINESIA, PRIMARY, 18 614874 Mode of pathogenicity for gene: DNAAF5 was set to Other - please provide details in the comments |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | DNAAF3 |
Rebecca Foulger gene: DNAAF3 was added gene: DNAAF3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAAF3 were set to 10745040; 22387996 Phenotypes for gene: DNAAF3 were set to PRIMARY CILIARY DYSKINEASIA 606763 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | COX7B |
Rebecca Foulger gene: COX7B was added gene: COX7B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COX7B 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: COX7B were set to 23122588; 9747372 Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 | 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 | 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 | 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 | 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 | 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 | ALDH18A1 | Rebecca Foulger Added phenotypes MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652 for gene: ALDH18A1 |