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| Structural eye disease v0.76 | SIX3 | Nicola Ragge reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21976454, 10369266, 21940735; Phenotypes: Holoprosencephaly 2, , 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | SIX3 | Ivone Leong commented on gene: SIX3: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.74 | SIX3 |
Ivone Leong Source Expert Review Amber was added to SIX3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Structural eye disease v0.48 | SIX3 | Ivone Leong edited their review of gene: SIX3: Changed phenotypes: Holoprosencephaly 2, 157170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SIX3 | Ivone Leong reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21976454, 10369266, 21940735; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.36 | SIX3 | Ivone Leong Phenotypes for gene: SIX3 were changed from Holoprosencephaly 2 157170; Holoprosencephaly 2, 157170 to Holoprosencephaly 2 157170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | SIX3 |
Ivone Leong Source NHS GMS was added to SIX3. Mode of inheritance for gene SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Holoprosencephaly 2, 157170 for gene: SIX3 Publications for gene SIX3 were changed from 21976454 to 21976454; 21940735; 10369266 |
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| Structural eye disease v0.2 | SIX3 |
Ellen McDonagh gene: SIX3 was added gene: SIX3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: SIX3 were set to 21976454 Phenotypes for gene: SIX3 were set to Holoprosencephaly 2 157170 |
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