PROP1

PROP paired-like homeobox 1
OMIM: 601538, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PROP1 in Differences of Sex Development Level 2: Dysmorphic and congenital abnormality syndromes Version 1.6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined, 2 (MIM#262600)
Green PROP1 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pituitary hormone deficiency, combined, 2 MIM# 262600 Ateliotic dwarfism with hypogonadism growth failure short stature failure to thrive absent sexual development at puberty GH, PRL, TSH, LH, and FSH deficiency pituitary hypoplasia
Green PROP1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PROP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined, 2, 262600 (3)
Green PROP1 in Pituitary hormone deficiency Level 2: Endocrine disorders Version 0.35	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 2 (262600)
Green PROP1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 2
Green PROP1 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 0.43	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Genomics England PanelApp Expert Review Green Phenotypes Hypoplastic or normal anterior pituitary although there have been reports of an enlarged anterior pituitary at initial scanning in childhood with spontaneous involution over time GH, TSH, LH, FSH, PRL deficiency with variable age of onset, evolving ACTH deficiency Commonest cause of combined pituitary hormone deficit without extra pituitary manifestations Pituitary hormone deficiency, combined, 2, 262600
Green PROP1 in Growth failure Version 1.76	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Pituitary hormone deficiency, combined, 2 MIM# 262600 Ateliotic dwarfism with hypogonadism growth failure short stature failure to thrive absent sexual development at puberty GH, PRL, TSH, LH, and FSH deficiency pituitary hypoplasia
Red PROP1 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Pituitary hormone deficiency, combined, 2- #262600
Green PROP1 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined, 2, MIM#262600
Green PROP1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Pituitary hormone deficiency, combined, 2, MIM#262600 Tags treatable endocrine
Green PROP1 in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Pituitary hormone deficiency, combined, 2, 262600 (3)