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| Structural eye disease v0.76 | TMEM67 | Nicola Ragge reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: 19058225, 30055837 ; Phenotypes: COACH syndrome, Joubert syndrome 6, Meckel syndrome 3, Nephronophthisis 11, {Bardet-Biedl syndrome 14, modifer of}, 216360, 610688, 607361, 613550, 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | TMEM67 | Ivone Leong edited their review of gene: TMEM67: Changed phenotypes: COACH syndrome, 216360, Joubert syndrome 6, 610688, Meckel syndrome 3, 607361, Nephronophthisis 11, 613550, {Bardet-Biedl syndrome 14, modifer of}, 615991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | TMEM67 | Ivone Leong reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: 19058225, 30055837 ; Phenotypes: Retinitis pigmentosa 31, 609923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.21 | TMEM67 | Ivone Leong Phenotypes for gene: TMEM67 were changed from COACH syndrome, 216360; Joubert syndrome 6, 610688; Joubert syndrome 6; {Bardet-Biedl syndrome 14, modifer of}, 615991; Meckel syndrome 3, 607361; COACH syndrome, 216360; Nephronophthisis 11, 613550 to COACH syndrome, 216360; Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifer of}, 615991; Meckel syndrome 3, 607361; COACH syndrome, 216360; Nephronophthisis 11, 613550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | TMEM67 |
Ivone Leong Source NHS GMS was added to TMEM67. Source Expert Review Green was added to TMEM67. Added phenotypes Joubert syndrome 6, 610688; {Bardet-Biedl syndrome 14, modifer of}, 615991; COACH syndrome, 216360; Meckel syndrome 3, 607361; Nephronophthisis 11, 613550 for gene: TMEM67 Publications for gene TMEM67 were changed from 19058225 to 30055837; 19058225 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Structural eye disease v0.2 | TMEM67 |
Ellen McDonagh gene: TMEM67 was added gene: TMEM67 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM67 were set to 19058225 Phenotypes for gene: TMEM67 were set to COACH syndrome, 216360; Joubert syndrome 6 |
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