EYA1:Ensemblv90

EYA transcriptional coactivator and phosphatase 1
OMIM: 601653, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green EYA1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.160 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services
Green EYA1 in Mendeliome Version 1.3802	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Anterior segment anomalies with or without cataract MIM#602588 Branchiootic syndrome 1 MIM#602588 Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Green EYA1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Branchiootic syndrome 1, MIM# 602588
Green EYA1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.84	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Branchiootic syndrome 1, MIM# 602588
Green EYA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Branchiootorenal syndrome
Green EYA1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes BOR1 BRANCHIOOTORENAL SYNDROME 1
Green EYA1 in Fetal anomalies Version 1.482	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Anterior segment anomalies with or without cataract MIM#602588 Branchiootic syndrome 1 MIM#602588 Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Red EYA1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Anterior segment anomalies with or without cataract MIM#602588 Branchiootic syndrome 1 MIM#602588 Branchiootorenal syndrome 1, with or without cataracts MIM#113650
Green EYA1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 1.0	1 review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Expert Review Green
Green EYA1 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Expert Review Green Phenotypes Branchiootic syndrome 1, MIM# 602588
Green EYA1 in Deafness_Isolated Level 2: Hearing and ear disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Branchiootic syndrome 1, MIM# 602588
Green EYA1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category A gene Phenotypes Branchiootorenal syndrome
Green EYA1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Phenotypes BOR1 BRANCHIOOTORENAL SYNDROME 1