FAM111A

family with sequence similarity 111 member A
OMIM: 615292, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green FAM111A in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	Unknown	Sources Expert Review Green Genomics England PanelApp Literature Victorian Clinical Genetics Services Expert Review Green Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Green FAM111A in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kenny-Caffey syndrome, type 2, MIM@ 127000
Green FAM111A in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.96 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000
Green FAM111A in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Green FAM111A in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Phenotypes autosomal dominant Kenny-Caffey syndrome MONDO:0007478
Red FAM111A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000
Green FAM111A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Radboud University Medical Center, Nijmegen NHS GMS Phenotypes Gracile bone dysplasia 602361 Kenny-Caffey syndrome, type 2 127000
Green FAM111A in Microcephalic Primordial Dwarfism and Slender bone dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.29	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Gracile bone dysplasia 602361 Kenny-Caffey syndrome, type 2 127000
Red FAM111A in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Radboud University Medical Center, Nijmegen Expert list Phenotypes 602361 Gracile bone dysplasia
Green FAM111A in Growth failure Version 1.76	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Kenny-Caffey syndrome, type 2, MIM@ 127000
Green FAM111A in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000
Green FAM111A in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000 Tags treatable skeletal
Green FAM111A in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Magnesium v38.1.0 Expert Review Green Phenotypes autosomal dominant Kenny-Caffey syndrome MONDO:0007478