Choanal atresia (Version 1.5)

Description

This panel contains genes associated with choanal atresia, with or without additional malformations, with thanks to Genomics England PanelApp for the original design of this panel.

Panel Activity

1 reviewer

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

16 Entities

16 reviewed, 14 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 16 Entitiess
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Genomics England PanelApp Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes CHARGE syndrome, MIM# 214800 MONDO:0008965 Tags
Green Green List (high evidence)	CTNND1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Literature Phenotypes Blepharocheilodontic syndrome 2, MIM# 617681 MONDO:0040503 chonal atresia Tags
Green Green List (high evidence)	EFTUD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Genomics England PanelApp Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mandibulofacial dysostosis, Guion-Almeida type MIM#610536 MONDO:0012516 Tags
Green Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Genomics England PanelApp Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Raine syndrome, MIM# 259775 MONDO:0009821 Tags
Green Green List (high evidence)	FGFR2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert Review Green Genomics England PanelApp Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Phenotypes Apert syndrome 101200 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410 Craniosynostosis, nonspecific Pfeiffer syndrome 101600 Craniofacial-skeletal-dermatologic dysplasia 101600 Beare-Stevenson cutis gyrata syndrome 123790 Tags
Green Green List (high evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Expert Review Green Genomics England PanelApp Radboud University Medical Center, Nijmegen UKGTN Phenotypes Crouzon syndrome with acanthosis nigricans 612247 Tags
Green Green List (high evidence)	FOXE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Review Green Genomics England PanelApp Literature Radboud University Medical Center, Nijmegen UKGTN Phenotypes Bamforth-Lazarus syndrome, MIM# 241850 MONDO:0009437 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Kabuki syndrome 1, MIM# 147920 Tags
Green Green List (high evidence)	RERE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Tags
Green Green List (high evidence)	SHH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Single median maxillary central incisor, MIM# 147250 Tags
Green Green List (high evidence)	SMCHD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bosma arhinia microphthalmia syndrome, MIM# 603457 Arhinia, choanal atresia, microphthalmia MONDO:0011323 Tags
Green Green List (high evidence)	SPINT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Radboud University Medical Center, Nijmegen Phenotypes Diarrhoea 3, secretory sodium, congenital, syndromic, MIM# 270420 MONDO:0010036 Tags founder
Green Green List (high evidence)	TXNL4A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Research Phenotypes Burn-McKeown syndrome, MIM# 608572 Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, MONDO:0012064 Tags 5'UTR SV/CNV
Green Green List (high evidence)	USP9X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Genomics England PanelApp Phenotypes Mental retardation, X-linked 99, syndromic, female-restricted MIM#300968 MONDO:0010502 Tags
Amber Amber List (moderate evidence)	PTPN14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Radboud University Medical Center, Nijmegen Phenotypes Choanal atresia and lymphoedema, MIM#613611 MONDO:0013324 Tags
Red Red List (low evidence)	SEMA3E	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Radboud University Medical Center, Nijmegen Phenotypes CHARGE syndrome, MIM# 214800 MONDO:0008965 Tags

Major version comments

2021-03-27 00:29 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1.

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