Holoprosencephaly and septo-optic dysplasia (Version 1.21)

Description

This panel was developed and is maintained by VCGS.

Panel Activity

18 reviewers

Alison Yeung (Victorian Clinical Genetics Services)
Samantha Ayres (Victorian Clinical Genetics Services)
Arina Puzriakova (Genomics England)
Di Milnes (Genetic Health Queensland)
Sarah Leigh (Genomics England)
Teresa Zhao (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Achchuthan Shanmugasundram (Genomics England)
Chirag Patel (Genetic Health Queensland)
Sangavi Sivagnanasundram (Melbourne Health)
Elena Savva (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 31 Entitiess
Green Green List (high evidence)	CDON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 11, MIM# 614226 MONDO:0013642 Tags
Green Green List (high evidence)	DHCR7	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Smith-Lemli-Opitz syndrome, 270400 alobar holoprosencephaly (HPE) Tags
Green Green List (high evidence)	DISP1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 10, MIM# 621143 Tags
Green Green List (high evidence)	FGF8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly MONDO:0016296 Tags
Green Green List (high evidence)	FGFR1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hartsfield syndrome, MIM# 615465 Tags
Green Green List (high evidence)	GLI2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 9, MIM# 610829 MONDO:0012563 Tags
Green Green List (high evidence)	HESX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Septooptic dysplasia, MIM# 182230 Tags
Green Green List (high evidence)	KMT2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Kabuki syndrome 1, MIM# 147920 Tags
Green Green List (high evidence)	PPP1R12A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual disability holoprosencephaly disorder of sex development Tags
Green Green List (high evidence)	PTCH1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 7, MIM# 610828 Tags
Green Green List (high evidence)	RAD21	4 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Holoprosencephaly Septo-optic dysplasia Tags
Green Green List (high evidence)	SHH	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 3 (MIM#142945) Tags
Green Green List (high evidence)	SIX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 2, MIM# 157170 MONDO:0007999 Tags
Green Green List (high evidence)	SMC1A	2 reviews 2 green	Other	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 Tags
Green Green List (high evidence)	STAG2	2 reviews 2 green	Other	Sources Expert Review Green Literature Phenotypes Holoprosencephaly 13, X-linked, MIM# 301043 Tags
Green Green List (high evidence)	TBC1D32	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Alsahan-Harris syndrome, MIM#621307 Orofaciodigital syndrome type IX, MIM#258865 Tags
Green Green List (high evidence)	TGIF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 4, MIM# 142946 MONDO:0007734 Tags
Green Green List (high evidence)	ZIC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Holoprosencephaly 5, MIM# 609637 MONDO:0012322 Tags
Green Green List (high evidence)	ZRSR2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Literature Phenotypes Orofaciodigital syndrome XXI, MIM# 301132 Tags
Amber Amber List (moderate evidence)	ARID1A	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Coffin-Siris syndrome 2 #614607 Tags
Amber Amber List (moderate evidence)	CNOT1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Holoprosencephaly 12 with or without pancreatic agenesis MONDO:0032787 Tags
Amber Amber List (moderate evidence)	PLCH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Holoprosencephaly 14, MIM# 619895 Tags
Amber Amber List (moderate evidence)	PRDM15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Holoprosenephaly Steroid resistant nephrotic syndrome Multiple congenital anomalies Tags
Amber Amber List (moderate evidence)	SOX2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Optic nerve hypoplasia and abnormalities of the central nervous system #206900 Microphthalmia, syndromic 3 #206900 Tags
Amber Amber List (moderate evidence)	STIL	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Microcephaly 7, primary, autosomal recessive, MIM# 612703 Tags
Red Red List (low evidence)	DLL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, MIM# 618709 Tags
Red Red List (low evidence)	GAS1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Holoprosencephaly Tags
Red Red List (low evidence)	GLI3	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pallister-Hall syndrome, MIM# 146510 Tags
Red Red List (low evidence)	NODAL	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Heterotaxy, visceral, 5 (MIM#270100) Tags disputed
Red Red List (low evidence)	SCN7A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Holoprosencephaly Tags
Red Red List (low evidence)	TDGF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital nervous system disorder, MONDO:0002320, TDGF1-related Tags disputed

Holoprosencephaly and septo-optic dysplasia (Version 1.21)

18 reviewers

31 Entities

31 reviewed, 19 green

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