Genomics England

ANAPC1

anaphase promoting complex subunit 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Green in Cutaneous photosensitivity with a likely genetic cause R-numbers: R237 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund-Thomson Syndrome Type 1
Green in Ectodermal dysplasia R-numbers: R163 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund-Thomson Syndrome Type 1
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368