Structural eye disease
Gene: BMP7
Wyatt: three families but incomplete penetrance observed. Null mice have anophthalmiaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability; None
Publications
Mode of pathogenicity
other - please provide details in the comments
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Wyatt: three families but incomplete penetrance observed. Null mice have anophthalmiaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability; None
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source Expert Review Amber was added to BMP7. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Source NHS GMS was added to BMP7. Mode of pathogenicity for gene BMP7 was changed from to other - please provide details in the comments Added phenotypes Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability; None for gene: BMP7 Publications for gene BMP7 were changed from 20506283 to 20506283; 7590254
gene: BMP7 was added gene: BMP7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP7 were set to 20506283