Optic neuropathy (Version: )

Relevant disorders: Inherited optic neuropathies, R41, R42.2
Signed off date: 19 Feb 2020
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
21 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MITOCHONDRIALN/AN/A
Green
MITOCHONDRIALN/AN/A
Green
MITOCHONDRIALN/Agene-therapy-trial
Green
MITOCHONDRIALN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A